Neonatology: First Physical Exam of Neonate and Respiratory Distress in Neonate, Exams of Nursing

Download Neonatology: First Physical Exam of Neonate and Respiratory Distress in Neonate and more Exams Nursing in PDF only on Docsity! 1 NEONATOLOGY a. FIRST PHYSICAL EXAM OF NEONATE 1) HEAD - CAPUT SUCCEDANEUM: edema/swelling of soft tissue of scalp; crosses cranial sutures in midline - CEPHALOHEMATOMA: limited by sutures; subperiosteal hemorrhages 2/2 birth trauma - CRANIOTABES: ping pong ball soft areas of skull that occur in parietal bones and are of no concern!! NOT RELATED TO RICKETS 2) EYES: red reflex (if abnormal cataracts, glaucoma, retinoblastoma, severe chorioretinitis) 3) NOSE: choanal atresia (if suspected, pass NG tube through each nostril) 4) MOUTH: - CLEFTs - MICROGNATHIA: small chin (if ++ cleft palate, glossoptosis and obstruction of upper airway PIERRE ROBIN SYNDROME) - MACROGLOSSIA: Beckwith Wiedemann syndrome (hemihypertrophy, visceromegaly, macroglossia), hypothyroidism, mucopolysaccaridosis - Normal: Epstein pearls, neonatal teeth 5) NECK/CLAVICLE: - Midline clefts/masses – thyroglossal duct or goiter 2/2 maternal antithyroid meds or transplacental passage of long acting TSH - Neonatal torticollis - Edema/webbing of neck – Turner syndrome - Clavicular fracture – can happen during delivery 6) CHEST - Pectus carinatum (prominent/bulding sternum) and pectus excavatum (depressed sternum) are BENIGN - Chest asymmetry absence of pectoralis muscle (POLAND SYNDROME) 7) RESPIRATORY: tachypnea, deep resp, cyanosis, expiratory grunting, intercostal/sternal retractions; preterm infants breathe irregularly w short, apneic bursts that last less than 5-10s 8) CARDIAC EXAM - DIMINISHED FEMORAL PULSES: coarctation of aorta - INCREASED FEMORAL PULSES: PDA 9) ABDOMINAL EXAM - Umbilical cord 2 arteries + 1 vein, absence of urachus; if only 1 artery, may have CONGENITAL RENAL ANOMALIES - Diastasis recti separation of right/left side of rectus; common, no treatment - Abdominal masses HYDRONEPHROSIS >> multicystic kidneys, ovarian cysts, etc 10) GENITALS - Hypertrophy of clitoris seen in premature infants and from virilizing adrenal hyperplasia - Hydrometrocolpos caused b imperforate hymen w retention of vaginal secretions; small cyst between labia at birth or lower midline mass in childhood - Hypospadias (no other congenital malformations), on VENTRAL surface - Epispadius (associated w BLADDER EXTROPHY), on DORSAL surface but too early - Hydrocele: scrotal swelling due to fluid accumulation in tunica vaginalis adjacent to testis, spontenous regression 2 - CROPTORCHIDISM: spontaneous descent by 12m usually, but if not, predisposed to uture malignancy 11) EXTREMITIES - Absence/hypoplasia of radius: TAR syndrome (THROMBOCYTOPENIA ABSENT RADII), FANCONI ANEMIA, HOLT-ORAM SYNDROME - Polydactyly:alone or syndrome - Edema of feet w hypoplastic nails: TURNER and NOONAN - Rockerbotom feet: trisomy 18 - Hips: developmental dysplasia (first born female breech) 12) SPINE: spina bifida, always visualize base of dimple 13) OVERALL SIZE - LGA: maternal diabetes, Beckwith Wiedemann syndrome, Prader Willi syndrome, nesidioblastosis (diffuse proliferation of pancreatic islet cells) ■ Complications: hypoglycemia, polycythemia - SGA: b. RESPIRATORY DISTRESS IN NEONATE - Pulmonary surfactant not at sufficient levels until 30-32 weeks gestation ■ Assess lung maturity by L:S > 2:1 and phosphatidylglycerol presence - Dx: CXR shows ground glass appearance w air bronchograms - Tx: supplemental O2, CPAP, mechanical ventilation if hypercarbia and resp acidosis develop, exogenous surfactant - Complications: ■ BRONCHOPULMONARY DYSPLASIA (BPD) mechanical vent for 2 weeks, resp compromise > 48h, need for supplemental O2 > 28d of life, characteristic CXR ■ RETINOPATHY OF PREMATURITY 5 - GASTROSCHISIS right paraumbilical area not in midline, no peritoneal sac so not true hernia; no association w other anomalies but increased risk of bowel damage 2/2 exposure i. INTESTINAL OBSTRUCTION j. INTESTINAL ATRESIA - Most common cause of obstruction in neonatal period k. MECONIUM ILEUS - Manifests 2/2 CF due to abnormal accumulation of intestinal secretions and deficiency of pancreatic enzymes caused by increased viscosity of meconium obstructs distal ileum - Cx: abdominal distention, lack of meconium passage, vomiting - Dx: abdominal radiographs show intestinal distention w minimal air-fluid levels; SOAP BUBBLE APPEARANCE mixed w meconium + gas is seen - Tx: enemas l. INTESTINAL MALROTATION - Volvulus loops of intestine twisted if attached to narrow band of mesentery m. HIRSCHSPRUNG - Lack of caudal migration of ganglion cells from neural crest cotnractio of distal segment of colon and obstruction w proximal dilatation - Cx: constipation, vomiting, abdominal distention - Dx: rectal biopsy - Tx: resection of affected segment or colostomy n. NEC - Abdominal distension, tenderness, residual gastric contents, bilious aspirate, bloody stools, abdominal erythema, MA, oliguria - Consequences: thrombocytopenia, DIC, death - Dx: radiographs (abdominal distension, air fluid levels, thickened bowel walls, pneumatosis intesinalis (air in bowel wall), venous portal gas - Tx: bowel rest, gastric decompression, abx, parenteral feedings, volume/pressors if shock ■ Surgical: ex lap for pneumoperitoneum, presence of fixed loop on serial radiographs, ++paracentesis ■ Tx: resection of necrotic bowel - Late complications: adhesions/strictures, malabsorption, short gut syndrome, cholestasis 6 o. HYPOGLYCEMIA - Glucose < 40 due to: ■ Diabetic mother (transient hypoglycemia) ■ Insulin producing tumor or islet cell hyperplasia (nesidioblastosis) ■ IUGR, preterm infants w limited hepatic glycogen stores and poorly developed gluconeogenesis, asphyxiated/stressed infants w sepsis, galactosemia, hereditary fructose intolerance, aminoacidopathies, GH deficiency, panhypopituitarism - Sx: diaphoretic, jittery, feeding issues, tachycardia, hypothermia, hypotonia, seizures, MI - Tx: increased oral feeding or IV glucose p. INFANTS OF DIABETIC MOTHERS - Maternal hyperglycemia fetal hyperglycemia and fetal hyperinsulinemia increased hepatic glucose uptake and glycogen synthesis, accelerated lipogenesis, augmented protein synthesis, macrosomia - Infants are plethoric w round facies, visceromegaly (due to increased body fat) q. POLYCYTHEMIA - Central venous Hct > 65% - Due to increased EPO 2/2 placental insufficiency, increased RBC production by fetus in response to hypoxemia, increased placental transfusion from delayed cord clamping - Clinical: plethora, poor perfusion, cyanosis, poor feeding, resp distress, lethargy, jitteriness, seizures, RVT, metabolic acidosis increased NEC RISK - Tx: partial exchange transfusion (blood removed and replaced with IV saline in stepwise manner) PEDIATRIC WELL CARE PEDIATRIC HEALTH SUPERVISION 7 1. CRANIOSYNOSTOSIS - Closure of saggital suture elongated skull (dolichocephaly or scaphocephaly) is most common form - Closure of coronal suture shortened skull (brachycephaly), more common in optic nerve atrophy - Closure of metopic sutures triangular shaped head (trigonocephaly) 2. PLAGIOCEPHALY - Most common is POSITIONAL (flattening of head) associated w congenital muscular torticollis 3. MICROCEPHALY - Reflects brain size - Congenital: TORCH, HIV, FAS, Chromosomal (13, 18, 21), familial, maternal PKU - Acquired: 3rd trimester/perinatal infections, meningitis in 1st YOL, HIE, hypothyroidism, inborn errors of metabolism 4. MACROCEPHALY - Doesn’t reflect brain size - Familial, overgrowth sx (Sotos syndrome), metabolic storage disorders (Canavan sx, gangliosidosis), neurofibromatosis, achondroplasia, hydrocephalus, cysts/tumors - Work up: assess parental head circumference and r/o bulging anterior fontanelle, irritability, vomiting (elevated ICP), and hydrocephalus 5. IMMUNIZATIONs - LIVE: oral polio, varicella, MMR ■ MMR and varicella may cause fever and rash 1-2 WEEKS after immunization - NON-LIVE: DTap, hep A, hep B, polio (inactivated), H Flu type B, influenza, pneumococcal, meningococcal ■ Cause local inflammation or fever 24hrs after - PASSIVE: VZIG (for immunocompromised at high risk of disease), newborns born to hep B++ get hep B IG, hep A IG before travel - CONTRAINDICATIONS: anaphylaxis, encephalopathy 7 days after DTaP vaccine ■ Pts w neuro disorders like uncontrolled epilepsy shouldn’t get DTaP until neuro status stabilized ■ Immunodeficient pts shouldn’t get OPV, MMR, or varicella ➔ Household contacts of immunodefficients shouldn’t get OPV either!! a) HEP B - HBsAg 3 shots in first year of life 10 GENETIC DISORDERS AND INBORN ERRORS OF METABOLISM a. DOWN SYNDROME - Low AFP (could also be overestimated GA, trisomy 18), low unconjugated estriol, high b-hCG ■ Low everything = TRISOMY 18 1. COMMON GENETIC DISORDERS a. MARFAN SYNDROME - AD on chromo 15 coding for fibrillin, CT tissue disorder affecting ocular, CV, skeletal systems - Clinical: tall, elongated extremities w long fingers, joint laxity, pectus excavatum ■ Decreased upper to lower segment ratio ■ Upward lens subluxation ■ CV findings: aortic root dilatation - Dx: clinical ■ R/p HOMOCYSTINURIA (has many of same findings) - Complications: endocarditis, retinal detachment, sudden death, HTN and chest trauma increase dissection risk (reduce risk w b-blockers and avoidance of contact sports) ■ Endocarditis prophylaxis + regular optho exams b. PRADER-WILLI - Paternal genetic imprinting absence of region on chromo 15 - Clinical: almond shaped eyes, down-turned/fishmouth, FTT in 1st yol, then obesity due to hyperphagia later in childhood, short stature w small hands/feet ■ Neuro: hypotonia during newborn period, MR, learning disabilities ■ Hypogonadism (small penis/testes/cryptorchidism) - Dx: FISH probes - Complications: ■ Infants: hypotonia poor sucking and feeding, developmental delay ■ Childhood: obesity OSA ■ Adulthood: cardiac disease + T2DM c. ANGELMAN SYNDROME - Maternal genetic imprinting absence of region on chromo 15 - Clinical: happy puppet w jerky, puppetlike gait and frequent laughter ■ Neuro: jerky arms, ataxia, paroxysms of inappropriate laughter, MR severe 11 ■ Craniofacial: small wide head, large mouth w wide space between teeth, tongue protrusion, prognathia, blonde hair and pale blue eyes - Dx: FISH probes d. NOONAN SYNDROME - Male version of Turner syndrome - Usually sporading but AD pattern chromo 12 - Clinical: short, shield chest, short webbed neck and low hairline, hypertelorism, epicanthal skin folds, downslanting palpebral fissures, low set ears ■ Cardiac: right sided heart lesions (pulmonary valve stenosis) – vs. in TURNER’S = LEFT SIDED HEART LESIONS w COARCTATION OF AORTA ■ MR in 25% - Dx: clinical e. DIGEORGE SYNDROME - CATCH-22: Cardiac, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, on chromo 22 - Sporadic/AD inheritance - Clinical: short palpebral fissures, small chin, ear anomalies, aortic arch anomalies, VSD, TOF ■ Thymus and parathyroid hypoplasia cell mediated immunodeficiency with severe hypocalcemia - Dx: FISH for chromo 22 - Complications: infections (cell-mediated immunodeficiency), seizures (hypocalcemia) f. VELOCARDIOFACIAL SYNDROME - Cleft palate, wide nose, squared nasal root, short chin, fish-shaped mouth - VSD, right sided aortic arch - Neuro: neonatal hypotonia, learning disabilities, perseverative behaviors - Dx: FISH on chromo 22 g. EHLERS DANLOS SYNDROME - AD inherited defect in type V collagen hyperextensible joints, fragile vessels, loose skin - Clinical: hyperextensible joints (dislocation, scoliosis common), fragile/loose skin, tissue paper thin scars ■ Mitral valve prolapse, aortic root dilation, fragile blood vessels (easy bruising) ■ GI: constipation, rectal prolapse, hernias - Dx: clinical - Complications: aortic dissection and GI bleeding due to blood vessel fragility h. OSTEOGENESIS IMPERFECTA - Abnormal type I collagen - Clinical: blue sclerae, fragile bones, genu valgum (knock-knees), scoliosis or kyphosis, joint laxity, osteoporosis or osteopenia, yellow or gray-blue teeth, easy bruising - Dx: decreased collagen I in fibroblasts - Complications: early conductive hearing loss and skeletal deformities i. VACTERL association - V- vertebral defects - A – anal atresia - C – cardiac anomalies (VSD) - TE – TE fistula - R – renal/genital defects - L – limb defects (radial hypoplasia, syndactyly, polydactyly j. CHARGE association 12 - C—colobomas (absence or defect of ocular tissue), usually of the retina. Impaired vision is very common - H—heart defects, most commonly tetralogy of Fallot - A—atresia of the nasal choanae - R—retardation of growth and cognition - G—genital anomalies, including genital hypoplasia - E—ear anomalies, including cup-shaped ears and hearing loss k. WILLIAMS SYNDROME - Cocktail party personality caused by deletion on chromosome 7 that incudes gene for elastin (AD inheritance) - Clinical: elfin facies (short palpebral fissures, flat nasal bridge, round cheeks), MR, supravalvular aortic stenosis, idiopathic hypercalcemia in infancy, CT abnormalities (hoarse voice and hernias) - Dx: FISH l. CORNELIA DE LANGE SYNDROME - Single eyebrow and very short stature w/o skeletal abnormalities - Can be sporadic or AD - Clinical: SGA, FTT, single eyebrow, curly eyelashes, microcephaly, thin/down turned upper lip, micrognathia, MR, small hands and feet, cardiac defects ■ Infantile HYPERTONIA ■ Autistic features, lack of facial expression + self destructive tendencies - Dx: clinical m. RUSSELL-SILVER SYNDROME - Short stature and skeletal asymmetry w normal HC w sporadic inheritance - Clinical: small triangular face, prominent forehead, downturned mouth, short stature, limb asymmetry, café-au-lait spots on skin, excessive sweating n. PIERRE ROBIN SYNDROME - Micrognathia, cleft lip and palate, large protruding tongue - Complications: recurrent otitis media and upper airway obstruction (requiring tracheostomy) o. CRI DU CHAT SYNDROME - Partial deletion on chromo 5 - Clinical: slow growth, microcephaly, MR, hypertelorism, downslanting palpebral fissures, characteristic catlike cry 2. TRISOMY SYNDROMES a. TRISOMY 21 - Most common, 1:660 live births b. TRISOMY 18 15 1. DEFECTS IN AMINO ACID METABOLISM a. HOMOCYSTINURIA - Cystathione synthase deficiency, AR inheritance - Clinical features: FAIR HAIR AND EYES, DEVELOPMENTAL DEALY, CVA ACCIDENTS ■ share some characteristics with Marfan syndrome (without arachnodactly, ++Downward lens subluxation—vs upward lens subluxation in Marfan), hypercoagulable state (risk of stroke, MI, DVT), CV abnormalities (mitral/aortic regurgitation, aortic dilation is absent in contrast to Marfan syndrome), scolioisis (large, stiff joints), DD, mild MR, psychiatric illness, FAIR COMPLEXION, megaloblastic anemia - Similiarities to MARFANS: pectus, tall, arachnodacytly, joint hyperlaxity, skin hyperelasticity, scoliosis - Dx: elevated homocysteine and methionine levels - Tx: vitamin B6, folate, vit B12 to lower homocysteine levels ■ Antiplatelets to prevent stroke, CAD, VTE b. TRANSIENT TYROSINEMIA OF NEWBORN - Clinical: poor feeding or lethargy (first 2 weeks of life) - Dx: elevated serum tyrosine and phenylalanine levels - Management: decrease protein intake during acute episodes, vitamin C to eliminate tyrosine c. MEMBRANE TRANSPORT DEFECTS 1) CYSTINURIA - AR, defect in renal reabsorption of cysteine, lysine, arginine, ornithine that leads to renal stones - Clinical: UTI, dysuria, abdominal/back pain, urgency, urinary frequency 2) HARTNUP DISEASE - AR, defect in transport of neutral amino acids - Ataxia, photosensitive rash, MR, emotional lability d. UREA CYCLE DEFECTS - Elevated NH3 > 200 uM toxic to brain and liver poor feeding, hyperventilation, behavior changes, seizures, ataxia, coma - CORRECTION OF HYPERAMMONEMIA: ■ Sodium bicarbonate corrects acidosis ■ Sodium benzoate and sodium phenylacetate increase ammonia excretion ■ Oral Neosporin and lactulose prevent bacterial production of ammonia in the colon ■ Dialysis if all else fails 16 1) TRANSIENT HYPERAMMONEMIA OF NEWBORN - Self limited, may present in newborns within 24-48hrs - Resp distress, alkalosis, vomiting, lethargy 2) ORNITHINE TRANSCARBAMYLASE DEFICIENCY - Most common urea cycle defect!!!, XLR - Clinical: at onset of protein ingestion (vomiting/lethargy coma) - Dx: elevated urine orotic acid, decreased serum citrulline, increased ornithine, liver bx - Management: low protein, decrease ammonia levels, liver transplant 2. DEFECTS IN CARBOHYDRATE METABOLISM - GALACTOSEMIA - AR, galactose-1phosphate uridyltransferase deficiency - Suspect in any newborn w hepatomegaly and hypoglycemia - Clinical: begin after the newborn feeds a cow’s milk-based formula or breastfeeds for the first time (both cow’s milk and breast milk contain galactose). ■ Vomiting, diarrhea, FTT, hepatomegaly, cataracts w characteristic oil-droplet appearance, RTA - Dx: Nonglucose-reducing substance in urine tested by a Clinitest ■ Confirm by enzyme deficiency in red blood cells ■ prenatal and newborn screening - Management: galactose-free diet,such as soy or elemental formula - Prog: good with normal intelligence if the disorder is treated early. ■ Most females suffer from ovarian failure ■ Death in early infancy, typically from Escherichia coli sepsis if the diagnosis is not suspected and treated - HERIDATARY FRUCTOSE INTOLERANCE - fructose1-phosphate aldolase B deficiency - begins in infancy after the introduction of fruit or fruit juice to the infant’s diet - Sx: severe hypoglycemia, vomiting, diarrhea, FTT, and seizures - Management: avoidance of fructose, sucrose, and sorbitol - GLYCOGEN STORAGE DISEASES - Organomegaly and metabolic acidosis - VON GIERKE’S DISEASE - AR caused by glucose-6-phosphatase deficiency - Cllinical: persistent hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia, and enlarged kidneys - Management includes frequent feeding with a high-complex carbohydrate diet ■ Pts at risk for HEPATOCELLULAR CARCINOMA - POMPE’S DISEASE - Alpha-glucosidase deficiency - Presentation: flaccid muscular weakness and cardiomegaly in first 2 weeks of life FTT, hepatomegaly, and acidosis 3. LYSOSOMAL STORAGE DISEASES a. GANGLIOSIDOSES 1) TAY-SACHS - AR hexosaminidase A deficiency - INFANTILE ONSET: decreasing eye contact, hypotonia, mild motor weakness, increased startle due to hyperacusis, macrocephaly, cherry red macula, severe DD - JUVENILE/ADULT ONSET: after 2; ataxia, dysarthria, choreoathetosis, no cherry red maculas 17 2) GAUCHER’S - Glucocerebrosidase deficiency, MOST COMMON GANGLIOSIDOSIS, AR - Clinical: hepatosplenomegaly, thrombocytopenia, ERLENMEYER FLASK-SHAPE TO DISTAL FEMUR 3) NIEMANN PICK - Sphingomyelinase deficiency, present by 6m - Clinical: neurodegeneration, ataxia, seizures, hepatosplenomegaly, cherry-red macula 4) METACHROMATIC LEUKODYSTROPHY - Neurodegenerative disorder due to arylsulfatase A deficiency - Cx: seizures, ataxia, progressive MR, death by 10-20yo b. MUCOPOLYSACCHARIDOSIS - Lysosomal storage disease where glucosaminoglycans accumulate in multiple organs - Clinical: organomegaly, short stature, MR, specific skeletal abnormalities (dysostosis multiplex – thick cranium, J shaped sella turcica, malformed/ovoid vertebrae, short and thick clavicles, oar shaped ribs) 1) HURLER - Alpha-L-iduronidase deficiency, most severe, AR - Clinical: DD, hepatosplenomegaly, kyphosis, progressively coarsened facial features, frontal bossing, prominent sagittal/metopic sutures, wide nasal bridge, thick nasopharyngeal tissue, hydrocephalus, corneal clouding, progressive stiff joints all happened after 1 year of age! - Dx: dermatan and heparin sulfates in urine and decreased alpha-L-iduronidase activity in leukocytes or fibroblasts - Manage: early BM transplant to prevent neurodegeneration, but death 10-15yo 2) HUNTER - XLR, no corneal clouding!!! “HUNTER NEEDS SHARP EYES” - Clinical: hepatomegaly, hearing loss, stiff joints, small papules over shoulder/scapula, lower back, dysostosis multiplex 3) SANFILIPPO SYNDROME - AR, rapid and severe MR/motor retardation 4) MORQUIO SYNDROME - MR is absent!!! severe scoliosis leads to cor pulmonale and death by 40yo 8. FATTY ACID OXIDATION DEFECTS - Clinical: nonketotic hypoglycemia, hyperammonemia, myopathy, and cardiomyopathy - Medium-chain acyl-CoAdehydrogenase deficiency is the most common - Dx: tandem mass spectrometry detecting elevated plasma medium-chain fatty acids - Management: frequent feedings with a high-carbohydrate, low-fat diet and carnitine supplementation 9. MITOCHONDRIAL DISORDERS - Examples include Kearns-Sayre syndrome (ophthalmoplegia, pigmentary degeneration of the retina, hearing loss, heart block, and neurologic degeneration) and MELAS (mitochondrial encephalopathy, lacticacidosis, and strokelike episodes) - Diagnosis is based on tissue biopsy revealing abnormal mitochondria - Management is predominantly supportive and may include cofactor supplementation 20 e. LEUKOCYTE ADHESION DEFECT SYNDROMES - Deficient expression of CD18 (essential component of certain integrins present on surface of leukocytes) inability of leukocytes (mostly neutrophils) to exit vasculature and migrate to areas of infection/inflammation - Due to failure of innate host defenses against bacteria, fungi, other microorganisms due to defective tethering, adhesion and targeting of myeloid leukocytes to sites of microbial invasion - Hallmark: neutrophilia without polymorphs in infected tissue or pus - Patients w hx of delayed separation of umbilical cord, recurrent bacterial infections, necrotic skin lesions, severe gingivitis, periodontitis, alveolar bone loss leading to early loss of deciduous teeth and permanent teeth CLINICAL -absence of pus formation at infection sites -delayed umbiical cord separation (>30d) -poor wound healing -recurrent skin and mucosal bacterial infections -periodontitis (often necrotizing) LABS -leukocytosis w neutrophil predominance -cultures grow Staph Aureus or Gram neg bacilli -biopsy shows inflammatory infiltrate without neutrophils f. HYPER-IGE SYNDROME (JOB’S) - Chronic pruritis dermatitis, recurrent staphylococcal infections (skin/resp tract), markedly elevated serum IgE levels, eosinophilia, coarse facial features - Dental abnormalities, bone fractures, distinct facial appearance g. PRIMARY HUMERAL DEFICIENCIES - All recurrent sinupulmonary infections w viruses and encapsulated bacteria X-linked agammaglobulinemia Low/absent B cells Low immunoglobulins CVID Normal B cells Low immunoglobulins (G, M, A) IgA deficiency Normal B cells Low IgA Hyper IgM Syndrome Normal B cells Low IgG and IgG High IgM IgG subclass deficiency Normal B cells Low IgG h. BRUTON’S AGAMMAGLOBULINEMIA - X-linked recessive disorder characterized by defect in tyrosine kinase in B cells - Normal T cells (CD3++), low B cells (CD19++) - Presentation: male infant initially asymptomatic until 6-9m of age after which he begins to experience recurrent pyogenic (Strep Pneumo and H. Flu) infections - Maternal IgG protects infant from infections for first 6-9m - Dx: decreased IgG, IgA, IgM, and IgE ++ decreased/absent B cells on smear; absent tonsils on P/E - Other diagnostic criteria 21 ■ Recurrent bacterial infections in first 5 years of life ■ Serum IgG, IgM, IgA values are at least 2 SD below normal for age ■ Absent isohemagglutinins or poor response to vaccines ■ Less than 2% CD19+ B cells in peripheral circulation - Tx: frequent/regular IVIG can let patients have normal life i. AGAMMAGLOBULINEMIAS (B CELL MATURATIONAL ARREST) - Most common primary immunodeficiency - Poor B cell maturation and poor antibody production - High risk of infections from encapsulated bacteria due to need for ab binding for effective opsonization - Common infections: sinusitis, bronchitis, otitis media, pneumonia j. COMMON VARIABLE IMMUNODEFICIENCY (CVID) - Similar to Bruton’s but NORMAL B CELLS and no sexual predominance - Patients present at 15-35 yo - Resp infections: H Flu, Moraxella, Strep pneumo - GI (chronc diarrhea; giardia lamblia, Campylobacter jejuni) - Autoimmune: RA, autoimmune thyroiditis, ITP, autoimmune hemolytic anemia - Increased risk of malignancy - Dx: quantitive IG measrements (low), diminished Ab fxn (response to childhood infections), T cell proliferation to mitogens may be diminished - Tx: IVIG monthly, chronic diarrhea management w nutrition support, aggressive management of infections w antibodies k. COMPLEMENT DEFICIENCY - Recurrent infections w encapsulated bacteria Strep Pneumo, H. Flu, N. Meningitis - Also gonococcal - Also at risk for autoimmune conditions l. THYMIC HYPOPLASIA 2/2 DIGEORGE SYNDROME - Resultant T cell deficiency puts patients at high risk for viral and fungal infections PATHOGENESIS -chromosome 22q11.2 deletion -defective development of pharyngeal pouches CLINICAL -conotruncal cardiac defects FEATURES -abnormal facies -thymic aplasia/hypoplasia -cleft palate -hypocalcemia m. SCID - AR - Due to adenosine deaminase deficiency leading to deficiency in B and T cells - Absent thymic shadow, absent LN and tonsils, lymphopenia - Persistent diarrhea, opportunistic infections, oral candidiasis, recurrent sinopulmonary infections - Bacterial infections occur BUT PJP, candida, parainfluenza, HSV infections are more common - T cell deficiency – predisposes to viral and fungal infections 22 - B cell deficiency – predisposes to infection by bacteria - Dx: persistent lymphopenia (<1.5k), enumeration of lymphocyte populations on flow shows decreased T cells, severe hypogammaglobulinemia on serum Ig measurement, T cell response to mitogens/antigens severely depressed - Tx: supportive care, blood products should be irradiated to prevent GVHD, PCP prophylaxis w TMP-SMX, bone marrow transplant can be curative, gene therpy in future n. SELECTIVE IGA DEFICENCY - Decreased IgA w normal serum concentrations of other immunoglobulins - Pt presents w respiratory (sinusitis, pneumonia, otitis media, bronchitis), GI (giardia lamblia), GU infections, autoimmune/rheumatic dx (SLE, JRA, celiac), atopic diseases - Management: manage infections and complications; IVIG NOT indicated!!, no IgA replacement exists o. ATAXIA TELANGIECTASIA - AR defect on long arm of chrom 11 involved in cell cycle control, DNA recombination, cellular response to DNA damage combined immunodeficiency, cerebellar ataxia, oculocutaneous telangiectasias, predisposition to malignancy - Clinical: variable immunodeficiency (chronic sinopulm infections), severe progressive cerebellar ataxia (need wheelchair), telangiectasis (on bulbar conjunctiva 2-5yo), high risk of lymphoma/carcinoma, café au lait spots/vitiligo/gray hair/multiple endocrine abnormalities - Dx: IgE deficiency in 85%, IgA deficiency in 75%, T cell skin test anergy - Tx: treat neuro complications, monitor for malignancies, avoid ionizing radiation p. GENETIC B-CELL DEFICIENCY - Recurrent sinupulmonary infections w H.Flu and Strep Pneumo - Lack of IgA also predisposes to Giardia infection q. COMPLEMENT DEFICIENCIES - complement system is composed of plasma proteins and cellular receptors functioning in an integrated series of reactions to prevent infection - disorders involve absence or dysfunction of individual complement components or regulatory proteins - AR - Dx: normal total serum hemolytic component (CH50) all components of classic complement pathway are present/fxnal - Management: tx bacterial infections ■ Therapy with fibrinolysis inhibitors and attenuated androgens (such as danazol) for hereditary angioedema 1) EARLY COMPLEMENT PATHWAY (C1q, C2, C4) - associated with autoimmune diseases, such as systemic lupus erythematosus 2) LATE COMPONENTS OF CLASSIC PATHWAY (C5, C6, C8) - associated with increased susceptibility to disseminated meningococcal and gonococcal infections 3) C1 ESTERASE INHIBITOR - hereditary angioedema episodic swelling of various body parts, especially the hands and feet. The bowel wall may also swell, leading to severe abdominal pain. Angioedema affecting the airway can be fatal 25 pulmonary vascularity TGA Egg on string (narrow mediastinum) w normal/increased pulmonary vascularity TRUNCUS ARTERIOSUS Cardiomegaly w increased pulmonary vascularity TOTAL ANOMALOUS PULMONARY VENOUS RETURN Snowman (supracardiac shadow caused by anomalous pulmonary veins entering innominate vein and persistent left superior vena cava) and increased pulmonary vascularity HYPOPLASTIC LEFT HEART SYNDROME Cardiomegaly, increased pulmonary vascularity CASE 60: KAWASAKI DISEASE CASE SUMMARY: - 3 yo boy 4 day history of intermittent fever spiking 104 + irritability - Bilateral conjunctivitis, oropharyngeal injection, red cracked lips - Maculopapular truncal rash, hand and foot edema - Enlarged cervical LN DEFINITIONS: - HYDROPS OF GALLBLADDER: wall of gallbladder acutely distended without stone/inflammation associated w Kawasaki, group A strep, leptospirosis, or HSP - POLYMORPHOUS RASH: exanthem that may take various forms—maculopapular, erythema multiforme, morbilliform, scarlatiniform - STRAWBERRY TONGUE: erythema of tongue w prominent papillae, seen in scarlet fever, Kawasaki, and toxic shock syndrome - THROMBOCYTOSIS: elevated platelet count to 450k occurring after 10d illness, lasting several weeks LEARNING POINTS: - DDx: infectious/noninfectious streptococcal disease, staphylococcal toxin (toxic shock syndrome), rickettsial infection, measles, EBV infection, drug hypersensitivity rxn, systemic onset juvenile idiopathic arthritis, leptospirosis - Medium sized vasculitis associated w fever and exanthem, thought to be infectious, highest incidence in Asians and children < 5 yo - Diagnostic criteria: ■ Fever lasting >4 days ■ Bilateral bulbar conjunctivitis, generally w/o discharge ■ Oropharyngeal mucosal changes – pharyngeal erythema, red cracked lips, strawberry tongue ■ Polymorphous generalized erythematous rash (perineum) ■ Edema of hands/feet and erythema on palms/soles, periungual desquamation in subacute phase ■ Acute nontender cervical lymphadenopathy (unilateral, measures >1.5cm) ■ +/- If other organs involved: sterile pyuria, cerebrospinal fluid pleocytosis, mildly elevated hepatic transaminase levels ■ +/- abdominal pain, RUQ pain, vomiting, arthralgias, myalgias - Diagnostics: no labs; can do ECHO to monitor for coronary aneurysm development, elevated acute phase reactants (ESR/CRP), normocytic anemia, thrombocytosis all support dx - Labs: elevated CRP and ESR; leukocytosis w neutrophilia (vs lymphocytosis in viral infections), reactive thrombocytosis, sterile pyuria on UA (due to inflammation) ■ PHASE 1 (ACUTE): ESR, CRP ■ PHASE 2 (SUBACUTE): platelet count and decreasing ESR/CRP ■ PHASE 3 (CONVALESCENT): lab findings normalize 6-8 weeks - Prognosis: if no coronary artery disease, no long term sequelae ■ ECHO: coronary artery, valve abnormalities; pericardium (effusion), or myocardium (CHF) 26 - Tx: IVIG and aspirin (6-8w) to reduce coronary complications ■ ASPIRIN: in acute phase, do HIGH dose for anti-inflammatory effects; in subacute phase do low dose for antiplatelet effects ■ Can add platelets if pt unresponsive to IVIG ■ Live virus vaccines (MMR, varicella) delayed 11m following IVIG administration (interferes w immune response) ■ Children on prolonged aspirin receive influenza vaccine due to increased risk of Reye syndrome (acute encephalopathy, liver dysfunction, w 1/3 affected children dying from disease) ■ Even w treatment, 5% develop coronary artery dilation, 1% develop giant aneurysms ➔ Risk for development of aneurysms: male gender, fever > 10d, age < 12m, low serum albumin or Hb level, early cardiac findings (MR, pericardial effusion), thrombocytopenia Death by MI or aneurysm rupture - MOST COMMON CAUSE OF ACQUIRED HD in children worldwide - Fever for 5 days - Cervical LN > 1.5cm 1. CONGENITAL ANOMALIES a. SUMMARY CHART OF CYANOTIC HEART DISEASE IN NEWBORNS - Peripheral cyanosis: vasomotor instability or vasoconstriction due to cold temperature - Central cyanosis: apparent in tongue and inner mucous membranes (cardiac and noncardiac causes) ■ NONCARDIAC: pulm disease, sepsis, hypoglycema, polycythemia, NMD, diseases that impair chest wall movement ■ CARDIAC: TOF, TGA, Tricuspid atresia, Trincus arteriosus, TAPVC - Evaluation: pulse Ox, CBC, ABG, ECG, CXR, 100% challenge test, echo gives definitive dx DX EXAM X-RAY FINDINGS TRANSPOSITION OF GREAT VESSELS (TGA) **start prostaglandin E to keep ductus arteriosus open + do Echo Single S2 +/- VSD murmur Egg on string heart (narrow mediastinum) TETRALOGY OF FALLOT *VSD *OVERRIDING AORTA *PULMONARY STENOSIS *RVH Harsh pulmonic stenosis murmur VSD murmur Boot shaped heart (RVH) TRICUSPID ATRESIA --tissue located on floor of RA instead of tricuspid valve Single S2 VSD murmur (if no VSD, pulmonary atresia also present) ASD or PFO always present Minimal pulmonary blood flow (shown by minimal pulmonary vascular markings) – due to hypoplasia of RV and pulmonary outflow tract Left axis deviation on ECG TRUNCUS ARTERIOSUS **strong association w DiGeorge syndrome Single S2 Systolic ejection murmur (increased flow through truncal valve) Increased pulmonary blood flow (increased pulmonary markings), cardiomegaly, edema TOTAL ANOMALOUS PULMONARY VENOUS RETURN W OBSTRUCTION (all 4 Severe cyanosis Respiratory distress Pulmonary edema, snowman sign (enlarged supracardiac veins and SVC) 27 pulmonary veins ail to make normal connection to LA; RA gets blood from pulmonary and systemic venous systems resulting in RA and RV enlargement) ECG can show RVH and right axis deviation b. ACYANOTIC CONGENITAL ANOMALIES OF HEART: ASD, dextrocardia, PDA, VSD c. TETRALOGY OF FALLOT (7-10% of all cases) - Presentation: fatigue, peripheral/perioral cyanosis, systolic murmur along left sternal border - 4 anatomic abnormalities: VSD, overriding aorta over right/left ventricles, right ventricular outflow obstruction (determines clinical severity), RVH, pulmonary stenosis - Harsh, systolic ejection murmur over mid/left sternal border due to RVO obstruction (subvalvular, pulmonary valve stenosis or supravalvular narrowing in main pulmonary artery) - Squatting increases afterload and decreases right to left shunting across VSD to improve cyanosis but it increases intensity of murmur due to increased flow across RVOT ■ Knee to chest position causes INCREASE IN SYSTEMIC VASCULAR RESISTANCE ■ Provide O2 to stimulate pulmonary vasodilation and systemic vasoconstriction ■ Can also give morphine to relax patient, and IV fluids to improve RV filling and pulmonary flow - Management of acute hypercyanotic spell: squat, IV fluid bolus, O2, morphine to decrease agitation (slows HR), propranolol (slows HR, reduces contractility in RVOT, increases pulm blood flow), IV NaHCO3 to correct acidosis, correction of significant anemia w transfusion d. TRANSPOSITION OF GREAT ARTERIES (TGA) - Cyanotic congenital heart disease due to aorta arising from RV and pulmonary artery arising from LV - Death within year 1 of life if not corrected e. ASD - Asymptomatic left to right shunting usually due to ostium secundum defect - Associated with DOWN SYNDROME - Ejection systolic murmur can be present due to increased blood flow across pulmonic valve (ULSB) and maybe diastolic rumbe in LLSB - On ECG: RVH, RAD, RAE - On CXR: RA and RV enlargement and increased PVM - Characteristic wide and fixed splitting of 2nd heart sound f. VSD - Left to right shunting without cyanosis - Can develop pulmonary HTN in late stages + reversal of shunt leading to cyanosis (Eisenmenger syndrome) - HIGH PITCHED in LLSB - ECG: mild to moderate LVH, RVH If pulm HTN present - CXR: cardiomegaly w increased PVM - Murmur is holosystolic best heart at left mid-to-lower sternal border +/- apical diastolic rumble - Squatting INCREASES magnitude of murmur - Can lead to Eisenmenger syndrome if large VSDs 30 ■ Can cause muscle fatigability while climbing stairs due to lower body hypoperfusion - Rib notching caused by dilatation of collateral chest wall vessels is specific for coarctation f. NEONATAL LUPUS - Congenital heart block g. CONGENITAL RUBELLA - PDA h. KAWASAKI DISEASE - Coronary artery aneurysms i. MATERNAL LITHIUM USE - Ebstein’s anomaly – displacement of malformed tricuspid valve into RV - Droopy tricuspid results in severe tricuspid regurgitation and RA enlargement - Tall P waves and right axis deviation on ECG seen; can also see cardiomegaly from HF on CXR 3. CONDUCTION ABNORMALITIES a. WPW - Accessory pathway between atrium and ventricle resulting in pre-excitation and increased risk of tachyarrhythmias ■ Pathway conducts antegrade from atria t ventricles faster than conduction through AV node which allows part of ventricle to depolarize early leads to shortened PR interval, slurred initial portion of QRS (delta), and widened QRS complex ■ If there is retrograde conduction from ventricles to atria, SVT can result - Presents w chest pain, palpitations, syncope, cardiac arrest b. SINUS TACHYCARDIA 2/2 HYPERTHYROIDISM, COCAINE c. LONG QT SYNDROME (QT ~ 600ms) - INHERITED: Jervell-Lange-Nielsen syndrome (AR), Romano-Ward syndrome (AD) ■ AR due to molecular defects in K++ channel ■ Sudden death in fam, congenital sensorineural deafness ■ High risk of syncope, life threatening ventricular arrhythmias (torsade de pointes), sudden death risk ■ Tx: refrain from vigorous exercise, avoid meds below, maintain normal Ca2+, K+, Mg2+, beta blocker (propranolol) to shorten QT interval, pacemaker if symptomatic - ACQUIRED: ELECTROLYTE DERANGEMENTS -hypocalcemia -hypokalemia -hypomagnesemia MEDICATED INDUCED -macrolide, fluoroquinolone abx -psychotropic meds: antipsychotics, TCAs, SSRIs -Opioids: methadone, oxycodone -Antiemetics: ondansetron, granisetron -Antiarrhythmics: quinidine, procainamide, flecainde, amiodarone, sotalol 31 d. NARROW VS WIDE COMPLEX TACHYCARDIA - Narrow are well tolerated acutely - Wide complex are MEDICAL EMERGENCIES!! 4. SUDDEN CARDIAC DEATH a. Coronary artery disease b. Hypertrophic Cardiomyopathy - Common in african americans, AD inheritance - EKG: LVH (tall R in aVL + deep S in V3 via Cornell Criteria), repolarization changes in anterolateral leads I, aVL, V4,5,6 - Rx: beta blockers or calcium channel blockers - most common with no prior symptoms usually - Cardiac myocyte hypertrophy and fibrosis peaks during puberty and exertion can precipitate acute LV outflow obstruction - Inherited in AD pattern so FH of relative dead < 50 should prompt ECG and Echo - REFRAIN FROM SPORTS!! - MURMUR INTENSITY ■ INCREASED INTENSITY (due to decreased preload): valsalva, abrupt standing from sitting/supine, nitroglycerin administration ■ DECREASED INTENSITY: sustained handgrip (increased afterload), squatting (increased afterload and preload), passive leg raise (increased preload) c. Arrhythmia (long QT syndrome) - Much less likely than HCM so this should be the 2ND go-to answer – genetic testing warranted if structural cardiac problem not identified on autopsy 5. ID RELATED a. RHEUMATIC FEVER - From streph pharyngitis sequelae can get myocarditis 2-4 weeks after untreated episode w pharyngitis as first manifestation - Uncommon in children < 3 bc fewer epithelial cell attachment sites in throat - Antibiotic prophylaxis is IM benzathine penicillin G every 4 weeks ■ Rheumatic fever without carditis = 5 y or until 21 yo (whichever is longer) ■ Rheumatic fever w carditis but no residual heart or valvular disease by clinical/echocardiographic criteria = 10 y or until 21 yo (whichever is longer) ■ Rheumatic fever w carditis and persistent heart or valvular disease = 10 y or until 40 yo (whichever is longer) EPIDEMIOLOGY MAJOR CLINICAL FX -Joints -carditis -subcutaneous nodules -erythema marginatum -sydenham chorea MINOR CLINICAL FX -fever -arthralgias (polyarthritis) -ESR and CRP elevated -prolonged PR interval LABS -SEROLOGIC MARKERS: ASO titers, Anti-DNase and anti-hyaluronidase ab 32 -ECHO shows carditis decreased ventricular fxn, valv insufficiency, pericardial effusion Tx Benzathine penicillin (1 DOSE IM), penicillin for 10d -NSAIDs to control inflammation -Corticoisteroids in pts w severe CHF or valve dysfxn -CHF diuretics, digoxin, salt restriction -Sydenham’s chorea haloperidol LATE SEQUELAE Mitral regurgitation/stenosis PREVENTION Penicillin for group A streptococcal pharyngitis (Strep Pyogenes) - Cardiac involvement in 50% but it is most important clinical complication of rheumatic fever ■ Endocarditis is most common (mitral and aortic valve regurgitation) ■ Myocarditis 2/2 tachycardia out of proportion to extent of fever ■ Cardiac dilatation ■ HF ■ Pericarditis and pericardial effusions less common - Polyarthritis – migratory, asyemmetric, does not result in chronic joint disease!!! - Chorea – basal ganglia and caudate nuclei involvement that begins as hand clumsiness and progresses to choreoathetoid movement w emotional lability - Skin: erythema marginatum (pink, nonprutic spreads centripetally w central clearing over trunk and proximal limbs) ++ subcutaneous nodules over bony prominences b. PEDIATRIC VIRAL MYOCARDITIS ETIOLOGY -Coxsackie B virus -adenovirus viruses (enterovirus like coxsackie), bacteria (Corynebacterium diptheriae, strep pyogenese, staph aureus, M. TB), fungi (candida/cryptococcus), protozoa (Chagas), autoimmune (SLE, rheumatic fever, sarcoidosis), Kawasaki dx CLINICAL PRESENTATION -viral prodrome (flu like illness) -HF: dyspnea, syncope, tachycardia, nausea, vomiting, hepatomegaly (due to passive congestion from RHF), muffled heart sounds, pulmonary rales PATHOGENESIS Direct viral injury and autoimmune inflammation that leads to myocyte necrosis w subsequent impairement of systolic and diastolic function DIAGNOSTIC STUDIES -CXR: cardiomegaly, pulmonary edema -ECG: sinus tachycardia, nonspecific T wave changes -Echo: decreased EF, diffuse hypokinesis -endomyocardial biopsy (gold standard): inflammatory infiltrate of the myocardium w myocyte necrosis -elevated ESR, creatinine kinase (CK) MB fraction, and CRP, PCR of endomyocardial biopsy specimens PROGNOSIS Mortality: --newborns: 75% 35 - Patient can present a headaches - Angiography shows string of beads in renal artery 7. ACQUIRED a. BREATH HOLDING SPELLS - Associated with iron deficiency anemia - Clinical features: cyanotic (crying + breath-holding in forced expiration, apnea, cyanosis, limpness, LOC), pallid (minor trauma followed by LOC, breath-holding, pallor, diaphoresis) - Evaluation: CBC, serum ferritin b. POSTPERICARDIOTOMY SYNDROME - Pericardial effusion occurring within days-months after cardiac surgery - Leads to life threatening fluid accumulation characterized by distant heart sounds, hypotension and distended jugular veins - Requires drainage - Can progress to cardiac tamponade distant heart sounds, distended jugular veins, hypotension c. CONGESTIVE HEART FAILURE - Causes: increased pulmonary blood flow (VSDs/ASDs etc), obstructive lesions (severe aortic/pulmonary/mitral valve stenosis, coarctation of aorta, etc), mitral/tricuspid regurg, viral myocarditis, endocarditis, meds (doxorubicin), cardiomyopathies, bradycardia, anemia (high output CHF), rapid infusion of IVF, obstructive airway processes (enlarged tonsils, adenoids, laryngomalacia, CF) - Sx: poor feeding, tachycardia, sweating/pale ashen skin color, diminished UOP, enlarged cardiac sillhoute - LHF pulmonary edema (tachypnea, cough, wheezing, rales) - RHF hepatomegaly, peripheral edema, jugular venous distension - CXR: pulmonary vascular congestion and interstitial edema - Management: cardiac glyocosides (digoxin) to increase myocardial contractions and relieve tachycardia, loop diuretics (reduce intravascular volume), inotropic meds (dobutamine, dopamine), IV catheterization (to fix stenosis), surgical repair DERMATOLOGY CASE 33: PITYRIASIS ROSEA CASE SUMMARY: - 10yo slightly pruritic rash involving entire body, face, scalp, distal limbs - Lesions oval or round, <1cm in diameter with raised/pinkish color - Some lesions have scale, making skin look crinkly - On back, lesions oval and align along cutaneous cleavage planes NEXT STEPS: manage w emollients and anti-histamines if significant DEFINITIONS: - GUTTATE PSORIASIS: variant of psoriasis, often following strepto infection where sudden eruption of small, round or oval psoriatic lesions on trunk, face, proximal limbs occurs - NUMMULAR DERMATITIS: pruritic boggy or vesicular round lesions that erupt on extremities, buttocks, and shoulders; if chronic, lichenification can occur 36 - PITYRIASIS ROSEA: benign childhood eruption of oval/round lesions < 1cm diameter w raised edges and pink in color; heralf patch is noted 5-10 days prior to generalized eruption, which shows up in Christmas tree pattern LEARNING POINTS: - Childhood condition preceded by fever and malaise - Single round or oval lesions 1-10cm in size w raised border and scaly appearance (herald patch) occurring anywhere in body - Herald patch sometimes confused w tinea corporis KOH prep can differentiate - Cause is unknown but viral etiology suspected - Tx: bland emollient, oral antihistamine or corticosteroids if pruritus - DDx: ■ secondary syphilis (test sexually active pts, esp if lesions on palms or soles) ■ guttate psoriasis: variant of psoriasis where children have lesions across trunk, face, proximal limbs ➔ lesions are small oval or round lesions that occur after strep throat or perianal infection ➔ abx for strep results in marked skin improvement ■ nummular dermatitis: extremely pruritic coin sized lesions, typically on extremities, buttocks or shoulders; can be boggy, vesicular, weepy or dry and scaly ➔ treated similar to atopic dermatitis but higher potency topical steroids sometimes required ➔ lichenification can occur if lesions occur chronically ■ pityriasis lichenoides chronica is benign derm condition where generalized eruption of 3-5 reddish brown papules covered in grayish scale are found on trunk and extremities ➔ lesions become vesicular, hemorrhagic, crusted, superinfected ➔ by 2-6w, lesions flat, hyper/hypopigmented ➔ lack of herald patch and chronicity of lesions help distinguish it from pityriasis rosea ➔ tx: lubricants and topical steroids if necessary; topical erythromycin can also help ■ drug eruptions ■ viral exanthems ■ tinea corporis: circular, scaly, erythematous lesion w raised borders central clearing; tx: ketoconazole, clotrimazole CASE 44: ATOPIC DERMATITIS CASE SUMMARY: - 11m daughter, restless and scratches in her sleep; well-nourished, healthy appearing white female - Scratches and is restless in her sleep, otherwise healthy - Dry, red, scaly areas on cheeks, chin, around mouth - Plaque-like, weepy appearance w diaper area spared NEXT STEPS: determine rash duration, exarcerbation factors, FHx for atopic dermatitis, allergic rhinitis, asthma DEFINITIONS: - ATOPIC DERMATITIS: patch or plaque of erythematous; intense pruritus; most common eruption in children; usually pruritus and flexural; symmetrical in adults - CONTACT DERMATITIS: an adverse reaction to skin to an outside agent; includes primary irritant dermatitis (irritant diaper rash) and allergic dermatitis (poison ivy, nickel allergy) - ECZEMA: acutely inflamed papules and plaques; frequent associated with serous discharge and pruritus; eczematous eruptions include atopic dermatitis, seborrheic dermatitis, contact dermatitis - LICHENIFECATION: epidermal thickening, with normal skin lines resembling a washboard 37 - SEBORRHEIC DERMATITIS: self-limited scaly, erythematous and/or crusty eruption limited to skin with high concernation of sebaceous glands (cradle cap) LEARNING POINTS: - Cause of atopic dermatitis is multifactorial, involving genetic abnormalities of the epidermal barrier, immune function, environmental exposures, infection - NOT DUE TO AN ALLERGIC REACTION!! – it is more so precipitated by environmental stress on genetically compromised skin - Recent studies: linked epidermal barrier to mutations in filaggrin (FLG) gene - ATOPIC DERMATITIS: occurs in 3 phases: ■ Infant (birth-2years): occurs at 3m often on face and chin, sparing diaper; child restless during sleep ■ Childhood (2-12y): in flexural areas; perspiration stimulates burning/itching lichenification ■ Adults (>12): near onset of puberty due to hormonal changes; flexural inflammation, hand dermatitis, inflammation around eyes, lichenification in anogenital area; white dermographism may be seen - Dx: ■ Pt hx: eczema, asthma, allergic disease; sx worse w cold weather, wool, perspiration, stress, etc ■ Lab studies NOT helpful in dx ■ Serum IgE usually elevated - DDx: seborrheic dermatitis (weepy, cradle cap), scabies, irritant dermatitis, allergic contact dermatitis, eczematoid dermatitis (infection lesion near draining ear), ichthyosis, SCID, WAS, zinc deficiency, drug rxns, Letterer-Siwe disease - Tx: emollient use (cetaphil, eucerin, nutraplus, lac-hydrin); avoid drying soaps (ivory); topical corticoisteroids (avoided fluorinated corticosteroids); tacrolimus, pimecrolimus, nonsteroidal, immunodulator topicals; can use anti-histamine for itching CASE 50: ACNE VULGARIS CASE SUMMARY: - 13 yo complains of zits on face and shoulders - Has tried OTC benzoyl peroxide but hasn’t worked LEARNING POINTS: - Pubertal hormonal surges leads to increase in sebum production by sebaceous glands - Proliferation of Propionibacterium acnes leads to distension of follicular walls, causing obstruction of sebum flow follicles reach max capacity and rupture neutrophils and liposomal enzymes released causing further inflammation - Acne lesions ■ NON-INFLAMMATORY: open or closed comedones ■ INFLAMMATORY: papules, pustules, nodules, cysts - Tx: ■ First line: antibacterial soap, keratolytic agent for follicular desquamation (benzoyl peroxide, available OTC), comedolytic agent (tretinoin aka Retin A), and/or topical antibiotic (erythromycin) ➔ Topical tretinoin (Vit A derivative) inhibits formation of microcomedones and increases cell turnover ■ 2nd option: oral antibiotics (tetracycline) ■ Severe/resistant: oral tretinion - Topical abx preferred over systemic due to fever side effects ■ TOPICAL: Erythromycin and clindamycin often applied 2x daily in combination w benzoyl peroxide or tretinoin ■ ORAL: tetracycline 40 - Due to exfoliative toxin strains of Staph Aureus that target desmoglein 1 responsible for keratinocyte adhesion in superficial epidermis - Fever, irritability, skin tenderness w erythema starting on face and generalizing within 24-48h superficial blisters soon develop w flexural accentuation and perioral crusting - ++Nikolsky sign with desquamation in 5d and resolvation in 1-2w - Cultures are usually sterile - Tx: eliminate focus of infection w anti-staph abx e. ERYTHEMA MULTIFORME - HSV - Targetoid papule or plaque in acrofacial distro w palmar involvement common - --Nikolsky sign f. IMPETIGO - Localized epidermal infection due to S. Aureus or group A strep (bullous impetigo due to exfoliatoxin producing S. Aureus) - Blisters flaccid and rupture easily leaving honey colored crust - --Nikolsky sign g. SCARLET FEVER - Toxin producing strain of Group A strep - Usually has preceding infection w strep tonsillitis or pharyngitis - Skin findings preceded by fever, headache, vomiting, sore throat 12h-2d fine pink blanching papules on neck and upper trunk and quickly generalize w flexural accentuation w eruption having rough, sandpaper-like texture h. ERYSIPELAS - Usually due to Group A strep - Bacterial infection of dermis w well-demarcated, red, indurated, warm, tender plaque +/- lymphangitic streaking away from plaque 41 - Fever, chills, malaise i. ULCERATIVE/VESICULAR LESIONS - HSV and/or VZV - Tx: acyclovir j. ECZEMA HERPETICUM - Primary HSV associated w atopic dermatitis usually superimposed on healing atopic dermatitis lsions after exposure to HSV (baby w PMH of atopic dermatitis presents w umbilicaed vesicles over area 1 week later) - Umbilicated vesicles over area of healing atopic dermatitis - Accompanied w fever and adenopathy - Tx: acyclovir ■ Infection can be lifethreatening in children!! k. VARICELLA - Vesicular eruption on head and to trunk l. POISON IVY - CELL MEDIATED TYPE 4 HYPERSENSITIVTY (allergic contact dermatitis) - Lesions in linear or streaked fashion bc skin is inoculated by branches and leaves as pt walks past it m. HYPERSENSITIVITY REACTIONS - TYPE 1: IgE mediated allergen binds and cross-links 2 IgE molecules attached to mast cell; atopy, urticarial and anaphylaxis 42 - TYPE 2: Ab mediated cytotoxic reaction involving IgG or IgM to cell bound Ag; eg include hemolytic anemia, Rh hemolytic disease in newborn - TYPE 3: Immune complex mediated antibodies of IgG or IgM form complexes w antigens and nonspecifically activate the complement cascade and other inflammatory processes ; eg include serum sickness or Arthus rxn - TYPE 4: cell mediated exposure to allergen or toxic plants causing erythema, edema, pruritis, tiny vesicles and weepy/crusted lesions 24-48hr after contact w allergen n. HENOCH SCHONLEIN PURPURA - Child presents w palpable purpura in lower extremities, abdominal pain, arthralgias, renal involvement - Normal platelet count (unlike other causes of purpura!!) - Typically follows infection PATHOGENESIS IgA mediated leukocytoclastic vasculitis CLINICAL MANIFESTATIONS -Palpable purpura -arthritis/arthralgia -abdominal pain, intusseception -renal disease similar to IgA nephropathy LABS -normal platelet count and coag studies -normal to increased creatinine -hematuria +/- RBC casts +/- proteinuria TX -supportive (Hydration and NSAIDs) -hospitalization and systemic glucocorticoids in patient w severe sx 3. ACQUIRED a. ALOPECIA - Autoimmune - Smooth, discrete circular areas of hair loss wo scaling b. DISCOID LUPUS ERYTHEMATOSUS ALOPECIA - Autoimmune - Well demarcated plaques, inflammation scarring of hair follicles, cutaneous lesions (hypo/hyperpigmented), photosensitivity c. BURNS 45 DEFINITIONS: - AOM: ear pain, fever, w red, opaque, poorly moving, bulging TM - MYRINGOTOMY + PE-TUBES: prevents reaccumulation of middle ear fluids - OTITIS MEDIA WITH EFFUSION (serious OM): fluid collects behind TM but no sx of AOM LEARNING POINTS: - AOM high on DDx if pt presents w URI and ear pain - OTITIS EXTERNA: aka swimmer’s ear; due to Pseudomonas/gram-negatives, S. Aureus, or fungus (Candida/Aspergillus) ■ Tx: topical mix of polymyxin + corticosteroids - Bacteria: Strep Pneumo, non-typeable H. Flu, Moraxella catarrhalis >>> Staph Aureus, E. Coli, Klebsiella, Pseudomonas in neonates and immunodeficiency patients - Tx: amoxicillin if persists, change to amoxicillin-clavulanate, cefuroxime axetil, azithromycin, cefixime, ceftriaxone if no clinical improvement in THREE DAYS; tympanocentesis maybe ■ Can supplement w analgesics/antipyretics, but DO NOT use antihistamines, decongestants, or corticosteroids! - After episode, middle ear fluid can persist for months, effusion treated w observation as long as hearing is ok if persists for too long w less hearing, myringotomy w PE tubes - Complications of AOM: mastoiditis, temporal bone osteomyelitis, facial nerve paralysis, epidural/subdural abscess, meningitis, lateral sinus thrombosis, otitic hydrocephalus ■ MASTOIDITIS: fever, pain, swelling w redness behind ear; may need CT scan dx; tx is myringotomy, fluid culture, and parenteral antibiotics w surgical drainage if no improvement 24-48h CASE 14: NEONATAL RESUSCITATION CASE SUMMARY: - 2minute baby is floppy and blue; apgar 4-5 - Mom was supplemented w meperidine and promethazine during labor NEXT STEPS: evaluate HR and respirations; if no resp or HR < 100bpm, initiate ++ pressure ventilation by bag and mask, give Narcan/naloxone if mom get meperidine/opioids during labor DEFINITIONS: - NARCOSIS: deep stupor, unconsciousness due to drugs/anesthesia - PERINATAL HYPOXIA: inadequate oxygenation of neonate that can lead to brainstem depression and 2ndary apnea unresponsive to stimulation - PPV: mechanical breathing using bag and mask LEARNING POINTS: - ABCs - APGAR Sign 0 1 2 HR Absent < 100bpm >100bpm Resp Effort Absent Slow, irregular Good, crying Muscle tone Limp Some flexion of extremities Flexed, active motion Reflex irritability (response to catheter in nose) No response Grimace Cough/sneeze Color Blue, pale Body pink, Completely pink 46 acrocyanosis (extremities blue) ■ Score at 1 minute tells us status prior to delivery, scores < 3 require immediate resuscitation ■ 5m score is indicator of success of resuscitation ■ APGAR alone cannot determine neonatal morbidity/mortality - If HR < 60bpm w PPV w 100% O2, chest compressions for 30 seconds; if HR still < 60 w chest compressions for 30s, give epinephrine - Other factors that disrupt respiratory effort: ■ Diaphragmatic hernia pulmonary hypoplasia; bag and mask ventilation will cause accumulation of bowel gas and further compromise resp effort must do endotracheal intubation ■ Choanal atresia resp distress when child stops crying (babies obligate nose breathers until 4m but can breath through mouth when crying); dx by passing feeding tube through each nostril by ID of clouding on cold metal under infant’s nose; endotracheal intubation to bypass airway obstruction is required until surgical correction CASE 47: ESOPAGHEAL ATRESIA CASE SUMMARY: - 3.7kg w cough, choking episode, difficulty handling secretions, cyanosis - During resuscitation, orogastric tube meets resistance at 10cm NEXT STEPS: chest/abdomen radiograph w orogastric tube in place shows coiled tube in esophageal blind pouch LEARNING POINTS: - Common additional abnormalities seen w TEF: polyhydramnios (also seen in duodenal atresia) ■ Also check for congenital anomalies (present in 30-50%) VATER association (vertebral abnormality like bifid vertebral bodies, anal imperforation, TE fistula, radial/renal anomaly) ■ Common in pts w DiGeorge (thymic hypoplasia) abnormal 3rd/4th pharyngeal pouch formation during fetal development, anomalies of great vessels, esophageal atresia, bifid uvula, congenital heart disease, short philtrum, hypertelorism, antomongoloid slant palpebrae, mandibular hypoplasia, low- set, notched ears; may present a seizures 2/2 hypocalcemia - Presentation of TEF: excess oral secretions, coughing, chocking, cyanosis 2/2 aspirated secretions or w initial feeds - Neonates at risk of resp compromise due to aspiration ■ If pt has H-type fistula presents later in life with aspiration pneumonia or feeding difficulty - Esophageal pouch requires frequent suctioning while waiting for surgery - Post-surgical complications: postsurgical esophageal dysmotility, chronic GERD CASE 56: SEVERE HEARING LOSS CASE SUMMARY: - 13m doesn’t speak or babble, doesn’t follow verbal commands and doesn’t respond to name - Otherwise is affectionate, meets motor developmental milestones, well nourished NEXT STEPS: audiologic exam DEFINITIONS: - CONDUCTIVE HEARING LOSS: due to outer ear (external auditory canal atresia, otitis externa) or middle ear (cholesteatoma) - RETROCOCHLEAR/CENTRAL HEARING LOSS: due to auditory nerve or central auditory nervous system 47 - SENSORINEURAL HEARING LOSS: due to cochlear disorders (infection, noise, ototoxic agents, genetic defects) LEARNING POINTS: - Sensorineural hearing loss can be congenital or acquired, ½ are genetic ■ Syndromes associated w RENAL abnormalities have higher incidence of hearing loss ■ Most common AD syndrome, Waardenburg syndromes type I and II: partial albinism w white forelock, deafness, lateral displacement of inner canthi, heterochromic irises, eyebrow confluence, broad nasal bridge ■ Branchio-oto-renal syndrome: hearing impairment, preauricular pits, branchial fistulas, renal impairment, external ear abnormalities ■ Alport syndrome: nephritis, progressive renal failure, SNHL, ocular abnormalities ■ Down syndrome ■ Neurofibromatosis ■ Jervell and Lange-Nielsen prolonged QT syndrome ■ Hunter-hurler syndrome - INFECITOUS: ■ CMV (most common cause of congenital SNHL) ■ Toxoplasmosis, rubella, syphilis ■ Post-natal infections group B strep sepsis, strep pneumo meningitis ■ H. Flu meningitis, mumps, measles, rubella were common causes prior to vaccinations - Conditions associated w prenatal SNHL prematurity, low birthweight < 1500g, low Apgar, mech ventilation > 5d, hyperbilirubinemia, bacterial meningitis, ototoxic drug exposure, craniofacial abnormalities - Pharma/chem exposures causing SNHL aminoglycosides, loops, chemotherapy ie cisplatin, isotretinoin, lead, arsenic, quinine can cause in utero or postnatal - Universal neonatal screening done w otoacoustic emissions or auditory brain-stem evoked responses (absent if threshold > 30-40 dB) - Goal = dx < 3m, intervention< 6m early intervention increases communication skills and academic performance - Pts have slightly increased risk for otogenic meningitis and need careful attention to vaccination against Strep Pneumo - Use hearing aid (can be fitted at 2m), can opt for cochlear transplant CASE 59: FOREIGN BODY ASPIRATION CASE SUMMARY: - 2yo sudden inspiratory stridor, tachypnea, chest retractions - Lungs clear and CXR normal NEXT STEPS: bronchoscopy, IV access for maintenance fluids and sedation for procedure; NPO until resp distress resolves; monitor O2 sats DEFINITIONS: - STRIDOR: high pitched monophonic harsh sound, inspiratory due to upper airway obstruction (supraglottic, glottic, or subglottic) -- vs WHEEZING: polyphonic heard w stethoscope over lung bases LEARNING POINTS: - Ddx for patient w stridor ■ foreign body aspiration ■ anaphylaxis 50 LEARNING POINTS: - DKA is medical emergency - Hx: positive for polyuria, polydipsia, nausea, vomiting, abdominal complaints; hypothermia, hypotension, Kussmaul resp, acetone on the breath are common - Labs: elevated glucose (400-800), metabolic acidosis (w AG, excess endogenous anion production such as from lactic acid), hyperketonemia ■ Hyponatremia, elevated K+ despite low overall K+ ■ Elevated BUN and Crt due to dehydration ■ WHCs elevated - Tx: initial volume expansion w normal saline, then correction of hyperglycemia and hyperketonemia ■ Add K+ to IV fluids after urine output is established to counteract pts total body K+ depletion ■ Continuous insulin infusion at rate 0.1 started w IV rate adjusted based on results of hourly glucose measurements ■ Add glucose once glucose levels drops to 250-300 mg/dL ■ Low plasma pH and elevated serum ketone levels correct significantly in first 8-10hrs ■ AVOID HCO3 INFUSION UNLESS EXTREME SITUATION BECAUSE IT MAY precipitate hypokalemia, shift O2 dissociation curve to left, worsenening organ O2 delivery, overcorrect acidosis, result in worsening cerebral acidosis - Cerebral edema sx: headache, personality changes, vomiting, decreased reflexes ■ Etiology unknown ■ Tx: IVF, IV mannitol, hyperventilation - Evaluate for infectious causes of DKA!!! – ESP IN HIGH WBC SETTINGS CASE 21: GROWTH HORMONE DEFICIENCY CASE SUMMARY: - Healthy 8yo shortest in his class, developmentally appropriate - Mom and dad are both >5ft11in NEXT STEPS: CBC, ESR, electrolytes, UA, TFTs, IGF-1, IGF-BP3, bone age radiograph; chromosomal karyotype if it was a girl DEFINITION: CONSTITUTIONAL GROWTH DELAY: growth rate that is NORMAL, patient is just a LATE BLOOMER; condition where a healthy child’s growth is slower than expected for whom 1 or more parents showed pubertal developmental delay and ultimately normal adult height; bone age = height age ■ Can give monthly testosterone injections to jumpstart process ■ Child is still growing minimum 2 in (5cm) per year!! FAMILIAL SHORT STATURE: shortie w short parents IDIOPATHIC SHORT STATURE: dx unknown but pt is a shortie PATHOLOGIC SHORT STATURE: abnormal growth velocity (<2in/y) whose height falls more than 3 SDs below the mean with abnormal growth velocity LEARNING POINTS: 51 - 1st y of life: children grow 23-28cm per year, drops to 7.5-13cm for ages 1-3, until puberty, grow 4.5-7cm (2 INCHES) per year; at puberty, growth in girls is 10-11cm per yr and for boys its 8-9cm per year - Bone age and IGF can differentiate growth hormone deficiency and constitutional growth delay - GH DEFICIENCY : growth rate is slow and bone age is delayed, indicating role for GH for catch-up growth ■ CAUSES: brain tumors (must consider CRANIOPHARYNGIOMA in children >5 who isn’t growing 2in per year), prior CNS irradiation, CNS vascular malformation, autoimmune dx, trauma, congenital midline effects (pts w single central maxillary incisor or with cleft palate!!!) - Other non-GH causes for growth failure: poor appetite, weight loss, abdominal pain/diarrhea, unexplained fevers, headaches/vimiting, weight gain out of proportion to height, dysmorphic features - Work up if unknown cause: CBC (anemia), ESR (chronic inflammatory disease), electrolytes (acidosis or renal abnormalities), general health chem panel (hepatitis, liver dysfunction), UA (infection and renal disease), hypercortisolism (exogenous steroids), TFTs (hypothyroidism due to HASHIMOTO), IGF-1 or BP3 (GH deficiency), or for girls, chromo analysis (Turner sx; tx w GH will improve final height!!) - ENVIRONMENTAL: tobacco, alcohol - CHROMOSOMAL: Downs, Turner - GENETIC: Russell-Silver sx, Prader-Willi Sx - Viral infection early in preg: CMV, rubella CASE 30: PRECOCIOUS PUBERTY CASE SUMMARY: - 5 yo developed breasts and pubic hair over 3m, weight/height > 95%, tanner stage II, oily skin, facial acne NEXT STEPS: birth history, illness, hospitalization, meds, sibling health status, FHx early puberty, FSH and LH levels, bone radiographs DEFINITIONS: - PRECOCIOUS PUBERTY: 2ndary sex chars prior to 6-8yo in girls and 9 yo in boys - CENTRAL/TRUE PRECOCIOUS PUBERTY: GnRH depending HPA activation - PRECOCIOUS/NONCENTRAL PSEUDOPUBERTY: GnRH independent; no HPG activation; hormones exogenous via BCPs, esrotgen creams, or adrenal/ovarian tumors - PREMATURE ADRENARCHE: early activation of adrenal androgens (6-8yo), with hair and BO 52 - PREMATURE THELARCHE: breasts without pubic/axillary hair or linear growth acceleration LEARNING POINTS: - Idiopathic in > 90% girls, while structural CNS abnormality present in 25-75% boys - TURNER SYNDROME: ■ 45, XO ■ Webbed neck, high arched palate, increased nevi, renal anomalies, increased arm-carrying angle ■ Edema of hands and feet ■ Tx: recombinant GH and estrogen replacement therapy - KLINEFELTER SYNDROME: ■ 47, XXY ■ Gynecomastia, small testes ■ Replacement therapy w long-acting testosterone beginning 11-12 y - Work up: ■ Through history w onset of sx and which sx ■ Exam skin for café au lait spots (neurofibromatosis, McCune-Albright dx), oiliness, acne ■ Palpate abdomen for masses (and testes in boys) ■ In precocious puberty, sex hormone concentrations usually appropriate for observed stage of puberty but inapprops for chronological age ➔ Serum estrogen high in girls, testosterone high in boys ➔ Immunometric LH better than random blood samples ➔ GnRH stimulation test to measure peak response times and values of LH and FSH are helpful ■ Bone radiographs are advanced beyond chrono age in precocious puberty ■ R/o CNS lesion w MRI (esp if < 6yo) ■ Do pelvic U/S if GnRH independent causes suspected (ovarian tumors/cysts, adrenal tumors) - Tx: goal is to prevent premature closure of epiphyses and allowing full adult growth potential ■ Use GnRH agonist treatment to halt puberty 1. INHERITED ABNORMALITIES a. STEROID PATHWAY DEFICIENCIES (CONGENITAL ADRENAL HYPERPLASIA aka MINERALOCORTICOID DEFICIENCY) b. ‘; ENZYME DEFICIENCY HORMONAL ABNORMALITIES SYMPTOMS 21-hydroxylase (90%) -low cortisol and aldosterone -high testosterone -high 17-hydroxyprogesterone -ambiguous genitalia in girls -salt wasting (hypotension, vomiting, high K+, low Na+) 11b-hydroxylase -low cortisol and aldosterone -high testosterone -high 11-deoxycorticosterone (weak mineralocorticoid) and 11- deoxycortisol -ambiguous genitalia in girls -fluid and salt retention, hypertension 17a-hydroxylase -low cortisol and testosterone -high mineralocorticoids -high corticosterone (weak mineralocorticoid) -all patients phenotypically female -fluid and salt retention, hypertension 55 - FSH: ■ In girls: ovaries will produce ovarian follicles that produce estrogen ■ In boys: stimulates seminiferous tubules in testes to produce sperm - LH: ■ In girls: positive feedback in middle of menstrual cycle to release egg ■ In boys: stimulates testicular leydig cells to produce androgens that are responsible for penile enlargement and the growth of axillary, facial and pubic hair - CENTRAL: increased FSH and LH due to early activation of HPO axis ■ Must get brain imaging w MRI or CT FIRST WHETHER SYMPTOMATIC OR NOT ■ Tx: GnRH analog - PERIPHERAL: low FSH and LH due to gonadal or adrenal release of excess sex hormones ■ Dx: GnRH stimulation test ++ ➔ BOYS: FSH, LH, testosterone, b-HCG levels ➔ GIRLS: FSH, LH, estradiol ■ Due to estrogen producing ovarian cysts, CAH, testosterone abuse (usually in adolescent athletes), etc ➔ IN GIRLS: adrenal tumors, virilizing ovarian tumors (arrhenoblastomas), feminizing ovarian tumors (juvenile granulosa tumors), nonclassic CAH, McCune Albright Sx ➔ IN BOYS: adrenal tumors, Leydig cell tumors (asymmetric tesiticular enlargement), nonclassic CAH, b-HCG producing tumors, McCune Albright sx, testotoxicosis ■ CAH can present nonclasically w advanced bone age, coarse axillary/pubic hair, severe cystic acne due to 21-hydroxylase deficiency ■ MCCUNE ALBRIGHT SX: bony changes (polyostotic fibrous dysplasia), skin findings (hyperpigmented macules/café-au-lait), endocrinopathies (PPP, hyperthyroidism), enlarged gonads but sex steroid secretion independent of HPGA ■ TESTOTOXICOSIS: testes enlarge bilaterally independent of HPGA ■ B-HCG SECRETING TUMORS: only in boys; tumors found in chest, pineal gland, gonad, liver (hepatoblastoma) stimulates LH due to cross-rxn Leydig cells androgen release - PREMATURE THELARCHE: boobs common and benign in first 2 years of life; no work up unless growth spurt and/or pubic hair 56 - PREMATURE ADRENARCHE: early onset pubs/pit hair without breasts or testes; common in girls, >5yo, no treatment d. DELAYED PUBERTY - WORK UP: CBC, ESR, T4, testosterone, estradiol, FSH, LH, prolactin, bone age 1) HYPOGONADOTROPIC HYPOGONADISM - Constitutional delay of puberty (no testes by age 14 in boys, no boobs by 13 in girls/no menarche by 14) - Chronic diseases: IBD, anorexia, renal failure, HF - Hypopituitarism - Hypothyroidism - Prolactinoma - GENETIC Sx: ■ KALLMAN SYNDROME (isolated GnRH deficiency w anosmia) ■ PRADER WILLI SYNDROME ■ LAWRENCE MOON BIEDL SYNDROME: obesity, retinitis pigmentosa, hypogonadism, polysyndactyly 2) HYPERGONADOTROPIC HYPOGONADISM - Chromosomal: KLINEFELTER’S SYNDROME, TURNER SYNDROME - Autoimmune (hypogonadism in autoimmune oophoritis which is associated w Hashimoto or Addison dx) e. KALLMAN SYNDROME - X linked recessive disorder of migration of fetal GnRH and olfactory neurons hypogonadotropic hypogonadism and rhinencephalon hypoplasia - Boys and girls have NORMAL genotypes - Clinical: short stature, delayed/absent puberty, absent breasts, small external genitalia, absent pubic hair/libido/no voice deepening f. ADRENAL INSUFFICIENCY 57 1) PRIMARY - Addison disease, CAH, adrenoleukodystrophy (x-linked recessive w neuro deterioriation) - Sx: cortisol deficiency (anorexia, weakness, hyponatremia, hypotension, increased pigment over healed scars), aldosterone deficiency (FTT, salt craving, hyponatremia, hyperkalemia) 2) SECONDARY - IATROGENIC (external glucocorticoid use for >2wks) >> Pituitary tumors, craniopharyngioma, Langerhans cell histiocytosis - NO ALDOSTERONE DEFICIENCY is key!! – serum potassium is normal since RAAS system intact 3) ACQUIRED - Addison Disease (destruction via lymphocytic infiltration; associated w other autoimmune like Hasimoto and Type 1 DM in type I polyglandular OR hypoparathyroidism and chronic mucocutaneous candidiasis in type II polyglandular) - Waterhouse-Friderichsen syndrome: acute adrenal hemorrhage in neonat and septiciemia usually 2/2 meningococcemia - Dx: ACTH stimulation test (test of choice) to compare bseline cortisol level w cortisol level 1 hour after ACTH injection; normally cortisol doubles in response to ACTH - Tx: medical emergency, IVF w 5% dextrose + NS to correct hyponatremia and prevent hypoglycemia, steroids until stabilized g. CAH - AR, most common cause of ambiguous genitalia when no gonads are palpable - Dx: - Enzyme deficiencies: 1) 21-hydroxylase (most common): pts have high 17-hydroxyprogesteorne levels a) classic salt-wasting, effects mineralocorticoid and glucocorticoid pathways resulting in cortisol and aldosterone deficiency ■ girls present at 1-2 w w ambigious genitalia; boys and girls have FTT, vomiting, electrolyte abnormalities b) simple virilizing CAH: only glucocorticioid pathway affected leading to cortisol deficiency ■ girls present at birth w ambigious genital ■ boys present 1-4yo w tall stature, advanced bone age, pubic hair, large penis 60 - Dry mucous membranes, polyuria, decreased LOC, diffuse abdominal pain, metabolic acidosis (low HCO3), following a URI in pts w DM1 - Systemic release of insulin counterregulatory hormones (catecholamines and cortisol) glucagon excess hyperglycemia, ketonemia, osmotic diuresis renal loss of K+ w depletion of K+ body stores (even though its elevated due to academia and decreased insulin activity causing redistribution) - MILD DKA: vomiting, polyuria, polydipsia, mild/moderate dehydration - SEVERE DKA: severe dehydration, severe abdominal pain that mimics appendicitis, rapid/deep respiration, coma - FRUITY BREATH - Labs: AG metabolic acidosis, hyperglycemia, glucosuria, ketonemia, ketonuria, hyperkalemia - Tx: fluids, electrolyte replacement, potassium repletion (w potassium acetate for MA or phosphate for 2, 3DPG), regular insulin (0.1 U/kg per hour) - Complications: cerebral edema (6-12h into therapy esp if pt < 5, glucose drops faster than 100 per hour, fluid more than 4 L over 24h), severe hypokalemia, hypocalcemia due to excessive K+-phosphate or osmotic losses l. DIABETES INSIPIDUS - Inability to maximally concentration urine due to low ADH (CENTRAL) or renal unresponsiveness to ADH (NEPHROGENIC) ■ ADH is synthesized by hypothalamic nuclei axons posterior pituitary ADH secretion increases water permeability of renal collecting ducts to water increased water reabsorption changes in volume, osmolality, posture 1) CENTRAL DI: autoimmune, trauma (HIE), hypothalamic tumors (craniopharyngioma, glioma, germinoma), Langerhans cell histiocytosis (25% get it), granulomatous disease (sarcoidosis, TB), vascular (aneurysms), genetic (AD inheritance) - Hypoernatremic dehydration w inapprops dilute urine with hypernatremia and increased serum osmo - Early morning specific gravity > 1.018 r/o dx of DI - Water deprivation test can be used to dx - MRI of head (hyperintense signal missing in posterior pituitary) - DO BONE SCAN TO R/O LANGERHANS CELL HISTIOCYTOSIS) - Tx: DDAVP (synthetic ADH) 2) NEPHROGENIC DI: X-LINKED RECESSIVE DISORDER! FEMALE REPRODUCTIVE SYSTEM/BREAST CASE 5: KLINEFELTER SYNDROME CASE SUMMARY: - 13yo immature and insecure with below avg school performance - P/E: 95%ile for height-age, extremities longer than expected; gynecomastia; small gonads, tanner stage 1 NEXT STEPS: chromosomal analysis DEFINITION: 61 - KLINEFELTER SX: syndrome associated w behavioral problems (immaturity, insecurity), developmental delay (speech, language, lower IQ), physical findings (gynecomastia, hypogonadism, long limbs), caused by extra X chromo (XXY) - TURNER SYNDROME: short stature, amenorrhea, excessive nuchsal skin, low posterior hairline, widely spaced nipples, broad chest, cubitus valgus (increased carrying angle of arms), edema in hands and feet of newborn, congenital heart disease (coarctation of aorta or bicuspid aortic valve); horseshoe kidney, short 4th metacarpal and metatarsal; hypothyroidism, decreased hearing, no MR!! - FRAGILE X: most common inherited form of MR; seen mostly in boys, w macrocephaly, long face, high arched palate, large ears, macro-orchidism after puberty LEARNING POINTS: - MR causes: preconceptual and early embryonic disruptions (teratogens, chromosomes, placental dysfxn, congenital CNS malformations), fetal brain insults (infections, toxins, placental problems); perinatal difficulties (premie, metabolic disorders, infections), postnatal brain injuries (infections, trauma, metabolic disorders, toxins, poor nutrition); miscellaneous (postnatal difficulties) - Boys go undiagnosed until puberty due to subtleness of clinical findings - Pts have explosive tempers - P/E: tall, thin, long extremities, mild pectus excavatum, asymmetrical ears, large teeth, prominent glabella ■ taller and more aggressive than peers by age 6 ■ at puberty, severe acne, phallus small for age, gynecomastia, sparse facial hair, azospermia - INCIDENCE OF BREAST CANCER IS ELEVATED!! - Labs: chromosomal analysis, urine/serum amino and organic acids, serum levels of various compounds (ammonia, lead, zinc, copper, serum titers for congenital infections); CT, MRI, EEG - Management is mostly for MR CASE 40: DYSFUNCTIONAL UTERINE BLEEDING CASE SUMMARY: - 16 yo w heavy menstrual bleeding for 6m, lasting 10d, going through 10-12 pads - Last period ended 1 week ago but complains of dizziness when she stands - No abdominal pain or vaginal discharge, no sex - Mild resting tachy, orthostatic hypotension, pale nail beds and conjunctiva - Hb is 10 NEXT STEPS: Iron, low dose OCPs for 3-6m w f/u Hb in 6 weeks DEFINITION: LEARNING POINTS: - Dysfxnal uterine bleeding is abnormal flow that occurs HEAVILY in regularly cycle (MENORRHAGIA) or irregularly and NORMAL (metrorrhagia) - ABNORMAL VAGINAL BLEEDING: ■ Ectopic pregnancy ■ Threatened abortion ■ Infections: cervicitis, HPV, trichomonas) ■ Trauma ■ Hormonal contraceptives and other meds ■ Hypothyroidism ■ Foreign body ■ Malignancy - Bleeding usually painless in menorrhagia 62 - Dx: Hx, CBC w diff and platelets, reticulocyte count, P/E, consider PT, PTT, vWD, STDs, TFTs, pregnancy test, U/S ■ Identify if: coagulation disorder, thyroid disorder, ectopic pregnancy, threatened abortion, cervicitis - w/u: verify pt not pregnant, then test Hb level ■ Hb > 12 = mild bleeding; give iron supplements and follow up ■ Hb 9-12 = moderately severe bleeding; tx iron and monophasic OCP ■ Hb < 9 = severe bleeding; may need hospitalization and transfusion; use IV estrogen (Premarin) and high dose OCPs until bleeding stops; may require D and C if bleeding continues - Can try withdrawing OCPs after 3-6m; continue iron ntil 2m after anemia resolved CASE 31: AMBIGUOUS GENITALIA CASE SUMMARY: - 3.7kg infant delivered but doctors cant tell boy vs girl - Small scrotal sacs look like labia, no testes, microphallus+hypospadias or enlarged clitoris, no vaginal opening NEXT STEPS: karyotype, serum electrolyte levels, serum 17-a-hydroxyprogesterone levels DEFINITIONS: - CAH: AR disorder of adrenal steroid production w enzymatic deficiency (usually 21-hydroxylase) causing inadequate production of cortisol, excessive production of androgenic intermediary metabolites, and virilization LEARNING POINTS: - Male sexual differentiation is ACTIVE process (vs female sexual diff is the default) ■ Male sex initiated when SRY gene on short arm of Y present differentiates gonads into fetal testes testosterone (Leydig cells) and AMH (sertoli) testosterone stimulates wolffian ducts (epididymis, vas, seminal vesicles) and AMH inhibits development of mullerian structures (fallopian tubes, uterus, upper 1/3 of vagina) ■ EXTERNAL GENITALIA: conversion of testosterone to DHT by 5-alpha reductase penile enlargement, scrotal fusion, masculinization of external genitalia - FEMALE PSEUDOHERMAPRHODITISM: 46, XX; ambigious genitalia mostly due to CAH 21, 11, or 17 hydroxylase deficiency >> virilizing drug or tumor in mom during prego ■ INCREASED BP = 11B-OH DEFICIENCY ■ DECREASED BP = ADRENAL INSUFFICIENCY - MALE PSEUDOHERMAPHRODITISM: 46, XY; due to testosterone dyssynthesis, 5-alpha reductase/DHT deficiency, and decreased androgen binding to target tissues (androgen insensitivity syndrome is most common form of male pseudohermaphroditism); - TRUE HERMAPHRODITISM: usually 46, XX; bilateral ovotestes - MIXED GONADAL DYSGENESIS: 46, XY or 45, XO; testis w sertoli and leydig cells but no germinal elements; streak gonads, partial labioscrotal fusion, undescending testes most common; usually assigned female gender and undergo gonadectomy - Work up: ■ PHALLIC SIZE is most important factor in determining infant’s sex assignment ■ Karytopic using activated lymphocytes is important 1st step in lab evals of infants w ambiguous genitalia ■ CAH: 17-alpha-hydroxyprogesterone level should be calculated ■ Urinary steroids and plasma androgens before and after ACTH and hCG tell us if block in testosterone synthesis or 5-aR deficiency ■ U/S, MRI, UG sinus xray after contrast injection, fiberoptic endoscopy - Tx: 65 3. ACQUIRED a. TUMORS 1) GRANULOSA CELL TUMORS - 10% of all solid malignant ovarian tumors - Excessive estrogen production causing isosexual precocious puberty - Development of 2ndary sex chars, hypertrophy of breasts and external genitalia, pubic hair growth, hyperplasia of uterus - Removal of tumor will cause regression of sx 2) DYSGERMINOMA - Average incidence age 20 - Occur unilaterally and occasionally undergo torsion - Neutral, no hormone release 3) SERTOLI LEYDIG CELL TUMOR - Produce androgens and cause defeminization followed by masculinization - Women of childbearing age complain of altered body contour, flattening of breasts, scanty/irregular menstruation, amenorrhea - Can get hirsuitism, coarsening of features, enlargement of clitoris 4) MATURE TERATOMA 5) CYSTIC ADENOMAS - Most common cystic ovarian neoplasms - 25% malignant, 50% bilateral - No hormone release - Present w ovarian mass and abdominal pain 66 b. VAGINAL FOREIGN BODIES - Foul smelling vaginal discharge w spotting and bleeding - Toilet paper is most common vaginal foreign body - Remove w calcium alginate swab or irrigation w warmed fluid after topical anesthetic applied - Sedation w generalized anesthesia may be required to remove some foreign bodies - **NEVER DO BIMANUAL EXAM ON PREPUBERTAL INFANT!!!! c. PRIMARY AMENORRHEA - Pelvic exam or US ■ Uterus present serum FSH: ➔ Increased: karyotyping ➔ Decreased: cranial MRI ■ Uterus absent karyotype, serum testosterone: ➔ 46, XX- normal female testosterone levels absent mullerian development ➔ 46, XY – normal male testosterone levels androgen insensitivity syndrome - IN PRIMARY AMENORRHEA: ■ FSH should be ordered even if there is no breast development ■ Pituitary MRI is next step if FSH is decreased ■ Karyotyping is next step if FSH is increased d. INITIAL MENARCHE - HPG axis immaturity (insufficient gonadotropin secretion) is a cause of irregular menstrual cycles in women shortly after start of menarche - Causes anovulatory cycles, period 3-6 weeks apart bc not enough LH/FSH to cause ovulation e. ACUTE ABNORMAL UTERINE BLEEDING - Most likely due to ovulation dysfxn, requires clinical intervention to prevent further bleeding in active bleeders 67 - Most common cause is immature HPO axis resulting in anovulatory cycles - ALWAYS ASSESS HEMODYNAMIC STABILITY AND DO PREGNANCY TEST - Treatment options: works to promote regrowth of endometrium over denuded epithelial surface that results from prolonged heavy bleeding; ■ High dose IV or oral estrogen ■ High dose combined OCPs ■ High dose progestin pills - can give progesterone if contraindication to estrogen or to treat AUB related to anovulation (less affective though) ■ Tranexamic acid – in pts w contraindication to estrogen and progesterone ■ Can do emergency D and C if medical management fails after 24-36hrs ■ Give packed RBCs if hemodynamically unstable 2/2 vaginal bleeding ( Hb < 7) f. DYSMENORRHEA - PRIMARY DYSMENORRHEA pain due to release of prostaglandins from endometrium causing uterine contractions ■ Normal P/E ■ Tx: NSAIDs - SECONDARY DYSMENORRHEA EXAM PAIN PATHO ENDOMETRIOSIS Uterosacral nodularity, adnexal tenderness Bleeding from ectopic endometrium; pain precedes menses by few days; some pts have dyspareunia w deep penetration ADENOMYOSIS Uterine tenderness and enlargement ; bulky, globular, tender uterus in women > 35 Bleeding from ectopic endometrium PELVIC INFECTION Cervical motion tenderness; purulent cervical discharge Bacterial infection, inflammatory response UTERINE LEIOMYOMATA Uterine contour irregularity May be associated w heavy bleeding + prolonged bleeding MALE REPRODUCTIVE SYSTEM 70 - XRAYS: ■ NEC intramural air in portal venous system ■ Intusseseption dilated portion of proximal bowel w air distally air-contrast enema or U/S ■ Volvulus obstructive pattern - Meckel scan if Meckel diverticulum suspected - For upper GI bleeding, use EGD vs capsule endoscopy for small intestine vs lower GI bleeding, use colonoscopy CASE 18: INFANT OF DIABETIC MOTHER CASE SUMMARY: - Infant born via C-section, no prenatal care - Large (4.5g), grayish color w poor tone, no spontaneous respirations, pulse 100bpm NEXT STEPS: - Resuscitation AIRWAY, BREATHING, CIRCULATION ■ Provide O2 and stimulate baby to breathe on own ■ If this fails bag and mask ventilation endotracheal intubation - Frequent checks for hypoglycemia over 24hrs of life DEFINITIONS: - GESTATIONAL DIABETES: persistent hyperglycemia during pregnancy w serum glucose > 95 mg/dL in fasting state + >oral glucose tolerance test - HYPOGLYCEMIA: blood glucose < 40 mg/dL; sx – lethargy, listlessness, poor feeding, temp instability, apnea, cyanosis, jitteriness, tremors, seizure activity, respiratory distress - MACROSOMIA: >4kg or >90% for gestational age - POLYCYTHEMIA: in newborn, central Hct > 65; can lead to thrombosis if infant is symptomatic and remains untreated - CAUDAL REGRESSION SYNDROME: rare congenital malformation found exclusively in IDM; hypoplasia of sacrum and lower extremities LEARNING POINTS - Diabetes effects 7% of all pregnancies, women screened 24-28w of prego - Categorized by White Classification; women w insulin requirement at higher risk for poor perinatal outcome vs carbohydrate intolerance management by diet alone - Many malformations associated with GD are a result of hyperglycemia early in the pregnancy ■ Fetal pancreas produces insulin starting at 26w when macrosomia 2/2 GD identified ■ Macrosomia due to increased adipose tissue deposition and GH effects of insulin ■ Increased glycogen stored in liver, kidney, skeletal muscle and heart ■ Insulin doesn’t effect bone/brain growth so head circumference and height not effected so weight of IDM is in shoulders and abdomen - Fetal hyperinsulinism is response to poorly controlled maternal hyperglycemia resulting in fetal macrosomia and increased fetal O2 requirements ■ Can lead to perinatal asphyxia and increased production of EPO polycythemia, which contributes to elevated bilirubin levels and can case hyperviscosity sx venous thrombosis (kidney, sinus), stroke, NEC, persistent pulmonary HTN - After delivery, can cause hypoglycemia levels 25-40 require urgent feeding, if <25, requires IV glucose - RDS, polycythemia w hyperviscosity syndrome, hypocalcemia, hypomagnesemia, and hyperbilirubinemia are other sequelae requiring management ■ Hypocalcemia can cause irritability, sweating, seizures - Infants at higher risk for congenital heart disease, NTD, small left colon syndrome, and caudal regression syndrome - Shoulder dystocia common when vaginally delivered 71 - If DM occurred early or is severe, baby may be small due to severe vascular disease and placental insufficiency will be overweight in childhood and adolescence CASE 19: GILBERT SYNDROME CASE SUMMARY: - 12D old infant turning yellow - Feeding well, no signs of illness - Father has elevated bilirubin as well DEFINITIONS - CONJUGATED/DIRECT BILIRUBIN: bilirubin chemically attached to glucuronide by an enzymatic process in the liver - ERYTHROBLASTOSIS FETALIS: increased RBC destruction bc of transplacental maternal ab passage active against infant’s RBC antigens - HEMOLYSIS: rapid breakdown of RBCs; clinical/lab findings include rapid rise in serum bili > 0.5, anemia, pallor, reticulocytosis, hepatosplenomegaly - KERNICTERUS: neuro of unconjugated bili deposition in brain cells, esp basal ganglia, globus pallidus, putamen, caudate nuclei; less mature/sick infants have greater susceptibility; lethargy, poor feeding, loss of Moro reflex - POLYCYTHEMIA: central Hct >65%, leading to blood hyperviscosity - UNCONJUGATED/INDIRECT BILIRUBIN: bilirubin yet to be attached to glucuronide in liver LEARNING POINTS: - HYPERBILIRUBINEMIA WORK UP ■ Indirect/direct bilirubin concentration ■ Hb level, reticulocyte count, blood type, peripheral blood smear examination ■ Coombs test (indirect to measure antibodies to RBCs in blood; direct coombs for id of antibodies on surface of infant’s RBCs) - Neonatal hyperbilirubinemia results from higher rates of bilirubin production and a limited ability to excrete it (mostly unconjugated due to limited ability to conjugate) - Fullterm newborns have peak bili 5-6 between 2nd-4th days of life - NONPHYSIOLOGIC JAUNDICE: ■ Caused by: septicemia, biliary atresia, hepatitis, galactosemia, hypothyroidism, cystic fibrosis, congenital hemolytic anemia (spherocytosis, maternal Rh, blood type sensitization), drug-induced hemolytic anemia ■ Appearance in 24-36h of life ■ Bilirubin rate of rise >>5 mg/dl/24h ■ Bilirubin > 12 mg/dL ■ Jaundice after 10-14d of life ■ Pallor, hepatomegaly, failure of phototherapy to lower bili, vomiting, lethargy, poor feeding, excessive weight loss, apnea, bradycardia - Jaundice in first 24 hours requires immediate attention ■ Usual causes: erythroblastosis fetalis, hemorrhage, sepsis, cytomegalic inclusion disease, rubella, congenital toxoplasmosis ■ Unconj bili can cause kernicterus – initial signs are lethargy and poor feeding followed by gravely ill appearance w respiratory distress and diminished tendon reflexes - 2% of breast-fed fullterm infants develop significant unconjugated bilirubin elevations (breast-milk jaundice) after 7th day of life – can go up to 30 mg/dL ■ Replacement w formula for 12-24hrs decrease bilirubin levels - GILBERT SYNDROME: non-physiologic cause of jaundice; genetic disorder of bilirubin metabolism involving decrease in activity level of UDP-glucuronosyltransferase 1A1 ■ Negative Coombs, normal Hb, normal retic count, prolonged hyperbili 72 ■ Risk factors: physiologic jaundice includes maternal diabetes, cephalohematoma, male gender, Asian origin, prematurity, polycythemia, trisomy 21, cutaneous bruising delayed bowel movement, upper GI obstruction, hypothyroidism, swallowed maternal blood, and a sibling with physiologic jaundice - Mechanisms of pathologic jaundice: ■ RBCs are lysed at too rapid a rate ■ Transmission of unconjugated bilirubin to the liver is interrupted ■ Liver enzyme deficiencies preclude appropriate metabolism of the unconjugated material - TREATMENT: phototherapy (unconj hyperbili) light changes skin’s bili isomerization into excretable form; can also do exchange transfusions (risks: air embolus, volume imbalance, arrhythmias, acidosis, resp distress, electrolyte imbalance, anemia, polycythemia, blood pressure fluctuation, infection, NEC) ■ 16-18 mg/dL at 24-48hrs ■ 16-18 mg/dL at 49-72hrs ■ >=20 mg/dL at 72 hours or more - ADMINISTRATION OF PHENOBARBITAL TO MOM DURING PREGO INDUCES GLUCURONYLTRANSFERASE, THUS REDUCING NEONATAL JAUNDICE CASE 35: BACTERIAL ENTERITIS CASE SUMMARY: - 2yo boy w 104 temp, cramping abdominal pain, emesis, frequent watery stools, bloody stools w mucus, has seizure NEXT STEPS - Check fecal leukocytes, fecal blood, stool culture - Hydration and electrolyte management are priorities - SALMONELLA (gram neg rod, facultative anaerobe, infection more common in warmer months)?? self- limited, generally not treated unless <3m or immunocompromised - SHIGELLA?? self limited but TREATED to decrease organism excretion - Do NOT use anti-motility agents!! (Immodium) DEFINITIONS - COLITIS: inflammation of colon - DIARRHEA: frequent passage of unusually soft or watery stools - DYSENTERY: intestinal infection resulting in severe bloody diarrhea w mucus - ENTERITIS: inflammation of small intestine, resulting in diarrhea; may be result of infection, immune response, etc LEARNING POINTS - SALMONELLA ■ TYPHOID/ENTERIC FEVER ■ NONTYPHOID: gastroenteritis, meningitis, osteomyelitis, bacteremia ■ Due to infected poultry/raw eggs; can also be from iguanas or turtles ■ Most commonly in form of gastroenteritis sudden onset nausea, emesis, crampy abdominal pain, watery/bloody diarrhea, can have neuro sx (confusion, headache, drowsiness, seizures) - SHIGELLA (small gram neg bacilli, nonlactose fermenters, facultative anaerobes) – dysenteriae, boydii, flexneri, sonnei ■ Infection common in 2nd/3rd year of life, <10yo ■ Fever, cramping abdominal pain, watery diarrhea (progressing to small bloody stools), anorexia, appear ill ■ Untreated, can last 1-2 weeks ■ Can rarely cause sepsis like presentation (EKIRI SYNDROME) death - Tests for SALMONELLA and/or SHIGELLA ■ Stool culture ■ Fecal leukocytes positive 75 ■ Preterm infants at significantly increased risk for iron deficiency anemia so start these babies on iron supplementation from birth - MATERNAL BREASTFEEDING BENEFITS CONTRAINDICATIONS -More rapid uterine involution and decreased postpartum bleeding -faster return to prepartum weight -improved child spacing -improved child spacing -improved maternal/infant bonding -reduced risk of breast and ovarian cancer -active untreated TB (mothers may breastfeed after 2 weeks of anti-tb therapy) -maternal HIV infection (in developed countries where formula is readily available) -herpetic breast lesions -varicella infection <5d prior to or within 2 days of delivery -specific maternal meds -chemo or ongoing radiation -active abuse of street drugs or alcohol - INFANT BENEFITS CONTRAINDICATIONS -improved immunity -improved gastrointestinal function (better gastric emptying due to whey protein source) -prevention of infectious disease: otitis media, gastroenteritis, respiratory illnesses, UTI -decreased risk of childhood cancer, type 1 DM, necrotizing enterocolitis Galactosemia b. MILK OR SOY PROTEIN INDUCED COLITIS EPIDEMIOLOGY -2-8 weeks -fhx allergies, eczema, asthma PATHO -non-IgE mediated immunologic response to dairy/soy proteins in formula or breast milk causing rectal/colonic inflammation CLINICAL FEATURES -regurgitation/vomiting -+/- bloody stools -+/- eczema TREATMENT -elimination of soy/milk from maternal diet of exclusively breastfed infants -initation of hydrolyzed formula and formula fed infants PROGNOSIS -spontaneous resolution by 1 yo c. LACTOSE INTOLERANCE - Chronic diarrhea w abdominal pain and cramps - Associated w ingestion of diary products, more common in Asians and Africans - Dx: ■ Improved sx after abstaining from dairy ■ Acidic pH in stool ■ Presence of ++reducing sugars - CONFIRMED BY: POSITIVE HYDROGEN BREATH TEST 76 d. DDX FOR REGURGITATION AND VOMITING IN INFANTS Dx Clinical fx Management Physiologic GERD -happy spitter -otherwise no sx -reassurance -positioning therapy Milk protein allergy -regurgitation or vomiting -eczema -bloody stools -elimination of dairy and soy protein from diet GERD Dx: pH probe measurement for 18h >> endoscopy w biopsy >> bronchoscopy w alveolar lavage if aspiration -failure to thrive -significant irritability -feeding refusal -Sandifier sx (torticollis with arching of back caused by painful esophagitis) -thickened feed - sitting upright - antacids, H2 blockers, PPIs -motility agents metoclopiramide (watch for drowsy, dystonic, restless) -Nissen fundoplication w G-tube Pyloric stenosis -first born male child -projectile nonbilious vomiting in 2-3w of life -olive shaped abdominal mass (just above and to the right of umbilicus) -dehydration and weight loss -proposed causes: abnormal muscle innervation, BF, early oral erythromycin, decreased NO synthase production -associated conditions: duodenal atresia, TE-fistula, tropsomy 18, Cornelia de Lange sx -HYPOCHLOREMIC, HYPOKALEMIC MET ACIDOSIS DX: abdominal US to measure muscle length and thickness +or UGI to show elongated, narrow pyloric channel (string sign) Tx: -correct electrolyte abnormalities and dehydration, THEN -pyloromyotomy - SEQUELAE OF GERD: ■ upper and lower airway disease bronchopulmonary constriction due to acid reflux can cause frank aspiration or microaspiration ➔ Sx: laryngitis, hoarseness, wheezing, vocal cord nodules, subglottic stenosis ■ GI: FTT, esophageal strictures, Barrett’s esophagus e. DDX FOR CRYING INFANT Dx Clinical features COLIC -crying that occurs in an otherwise healthy infant for >3hrs daily (evening), >3 times a week, for >3w usually at the same time every day!! GERD (due to inappropriate transient LES relaxation) **different from GER, “happy spitter” crew – resolves 6-12m -arching of back during or after feeding (Sandifer syndrome) -frequent spit-ups or vomiting -poor weight gain CORNEAL ABRASION -positive fluorescein exam HAIR TOURNIQUET -presence of hair that is accidentally tied or wrapped around extremity/digit MILK PROTEIN ALLERGY -blood streaked, mucousy, loose stools or severe constipation NORMAL INFANT CRYING -intermittent crying that resolves w usual consoling methods 77 -duration < 2hr a day - CALMING TECHNIQUES: infant swing, swaddling, minimizing environmental stimuli (quiet dark room), holding/rocking baby, proper feeding patterns and amount 2. CONGENITAL/INHERITED a. PEDIATRIC ABDOMINAL WALL DEFECTS UMBILICAL HERNIA -defect in linea alba covered by skin -sometimes contains bowel -umbilical cord inserts at apex of defect GASTROSCHISIS (elevated aFP on maternal screen) -defect to right of cord insertion not covered by membrane or skin -contains bowel -umbilical cord inserts next to defect -results in bowel exposed to amniotic fluid inflammation and edema of bowel wall increased risk for complications (necrotizing enterocolitis, short bowel sndome) -dysmotility in 50% ISOLATED DEFECT >90% OF THE TIME!!! -after delivery cover bowel w sterile saline dressings and plastic wrap to reduce insensible heat and fluid losses, place NG tube to decompress bowel, start on Abx, prompt surgical repair w single stage closure OMPHALOCELE -midline abdominal wall defect covered by peritoneum -contains multiple abdominal organs -umbilical cord inserts at apex of defect -other malformations in 50% of patients: cardiac disease, NTD, trisomy sx -require surgery after birth by staged closure w silastic silo b. BECKWITH-WIEDEMANN SYNDROME - Due to deregulation of imprinted gene expression on chromo 11p15 - Macrosomia, macroglossia, umbilical hernia, omphalocele, hemihyperplasia (“RIGHT EXTREMITIES ARE LARGER THAN THE LEFT”), hypoglycemia - Monitor child for development of Wilms tumor or hepatoblastoma ■ Surveillance w serum alpha-fetoprotein and abdominal/renal U/S c. ALAGILLE SYNDROME - AD - Paucity of intrahepatic bile ducts and multiorgan involvement - Cholestatic liver disease, pruritis can be debilitating - Unusual face: broad forehead, deepset, widespaced eyes, saddle nose w bulbous tip, pointed chin, large ears - Cardiac disease: pulmonary outflow obstruction (or TOF) - Renal disease in ½ pts - Eye anomalies: posterior embryotoxon - MSK: butterlfly vertebrae, broad thumbs 80 PATHOGENESIS Type 1: most common; extrahepatic, single cystic dilation of bile duct CLINICAL MANIFESTATION Classic triad of pain, jaundice, palpable mass Majority of cysts present at age < 10 yo -older children may present w pancreatitis -adults may present w RUQ pain or cholangitis DIAGNOSIS Visualization on US ERCP TREATMENT Surgical resection to relieve obstruction and prevent malignant transformation m. CELIAC DISEASE - Pts present w malabsorption/weight loss, anemia, and dermatitis herpetiformis - -test IgA-endomysial and anti-tissue transglutaminase antibody, confirm w upper GI endoscopy w small intestinal biopsy to confirm the dx GENERAL -fatigue -weight loss SKIN -dermatitis herpetiformis -vitiligo MSK -osteopenia/osteoporosis -osteomalacia HEMATOLOGIC -anemia (iron deficient) NEUROLOGIC -peripheral neuropathy -headache ENDOCRINE -autoimmune thyroiditis (hyper/hypothyroid) -type 1 diabetes PSYCHIATRIC -depression -psychosis n. MECKEL’S DIVERTICULUM - Epidemiology: rule of 2’s ■ 2% prevalence ■ 2:1 male to female ratio ■ 2% symptomatic at age 2 ■ Located within 2 feet of ileocecal valve - Patho: incomplete obliteration of fetal vitelline (omphalomesenteric) duct ■ 85% contain heterotopic gastric tissue and less commonly contain pancreatic tissue secretes HCl mucosal ulceration bleeding causing anemia or hemorrhagic shock even - Clinical presentation: ■ Asymptomatic incidental finding ■ Painless hematochezia ■ Intussusception ■ Intestinal obstruction ■ Volvulus - Dx: technetium-99m pertechnetate scan - Tx: surgery for symptomatic pts o. PAINLESS HEMATOCHEZIA - Ddx: hemorrhoids, infectious colitis, intussusception, Meckel’s diverticulum, IBD 81 p. CHOANAL ATRESIA - Suspect in newborn w cyclic cyanosis that is aggravated by feeding and relieved by crying - Due to congenital nasal malformation caused by failure of posterior nasal passage to canalize completely, leaving bony (90%) or membranous (10%) obstruction - May be part of CHARGE syndrome Coloboma, Heart defects, Atresia of the choanae, Renal anomalies, Growth impairment, Ear abnormalities/deafness - Failure to pass catheter through nose into oropharynx is suggestive of choanal atresia - Dx: CT scan showing narrowing at level of pterygoid plate in posterior nasal cavity - Tx: surgery/endoscopy - ***easy to confuse w TOF, but TOF is induced by exercise/stress and pts will have holosytolic murmur of VSD q. CYSTIC FIBROSIS - AR disorder in whites due to defective chloride transport resulting in viscous secretions in multiple organs and almost always involved lungs, sinuses, pancreas - Presentation: growth failure (2/2 PANCREATIC INSUFFICIENCY), recurrent sinopulmonary infections, steatorrhea ■ PANCREATIC INSUFFICIENCY Steatorrhea can cause deficiency in A, D, E, K and present as night blindness, fractures, neuropathy, and easy bruisability respectively ■ Bronchiectasis and URI w coughing/wheezing is common ■ Meconium ileus is virtually pathognomonic for cystic fibrosis (CF) – can be seen by microcolon on contrast enema; contracted colon result of viscous meconium accumulation and obstruction in terminal ileum ➔ Giving gastrogafin/hyperosmolar enema can break up inspissated meconium and dissolve obstruction if that doesn’t work, surgery is necessary!! - Dx: sweat chloride testing, genotyping, fecal elastase testing - Tx: pancreatic enzyme replacement therapy, bronchodilator (albuterol), chest physiotherapy, counsel parents on smoking cessation around child, counsel on increased risk for diabetes and infertility RESPIRATORY -obstructive lung disease bronchiectasis -recurrent pneumonia -chronic rhinosinusitis GASTROINTESTINAL OBSTRUCTION: meconium ileus, distal intestinal obstruction syndrome PANCREATIC DISEASE: exocrine pancreatic insufficiency; CF related diabetes **obstruction of ducts impairs secretion and production of amylase and lipase, causing fat malabsorption and growth failure REPRODUCTIVE -infertility (>95% men, 20% women) MSK -osteopenia fractures -kyphoscoliosis -digital clubbing 3. ACQUIRED 82 a. ACUTE PANCREATITIS - Uncommon but usually due to BLUNT TRAUMA >>> IDIOPATHIC - Other less common causes: INFECTIONS (mumps, enterovirus, EBV, HIV, hep A and B), drugs/toxins, congenital anomalies, obstructon - Sx: periumbilical or epigastric pain - P/E: gray-turner sign (bluish discoloration of flanks) or Cullen sign (bluish discoloration of umbilicus area) - Dx: serum amylase, lipase *more specific*, leukoctosis, hypocalcemia, hyperglycemia, elevated transaminases, coagulopathy, abdominal US for dx, abdominal CT for complications (pseudocyst, abscess, necrosis) - Tx: supportive care, TPN, abx, surgery to remove necrotic tissue b. ACUTE CHOLECYSTITIS - Occurs usually in sickle cell, CF, or long TPN therapy pts - If acute acalculous Salmonella, Shigella, E. Coli or after abdominal trauma, burns, vasculitis - Dx: +Murphy sign, abdominal US, cholescintigraphy - Tx: fluids, parenteral sbx, analgesia, cholecystectomy if disease progresses or peritonitis develops c. CHRONIC ABDOMINAL PAIN - ORGANIC: constipation, PUD, Carbohydrate intolerance (lactose, fructose, sorbitol), IBD, pancreatitis, parasitic (giardia lamblia), GU (pyelo, hydronephrosis), structural (malrotation, hernia) - LOCATION DETERMINES ETIOLOGY: ■ Epigastric nonulcerdyspepsia ■ Periumbilical classical functional abdominal pain (2ndary gain, doesn’t interfere w pleasurable activities) ■ Intraumbilical IBD d. CONSTIPATION IN CHILDREN RISK FACTORS -initiation of solid food and cow’s milk -toilet training -school entry CLINICAL PRESENTATION -straining w passage of hard stools -crampy abdominal pain 85 - Clinical fx: bilious vomiting + sudden onset abdominal pain in healthy infant or oldr child w intermittent crampy abdominal pain and vomiting; anorexia, distension, blood-tinged stools - P/E: normal first then peritonitis shock and CV collapse as ischemic progresses - Dx: upper intestinal contrast imaging is dx of choice (shows abnormal position of ligament of Treitz to the right of midline, partial/complete duodenal obstruction, jejunum to the right of midline), abdominal radiographs; lower intestinal contrast studies can show cecum in L abdomen or RUQ - Tx: surgical emergency; fluid resuscitation, NG suction, broad spectrum parenteral Abx, TPN if large section resection i. INFLAMMATORY BOWEL DISEASE - Dx: colonoscopy w biopsies of colon/terminal ileum - Tx: sulfasalazine (mild disease esp for UC), corticosteroids (for exacerbation), immunosuppressive agents (induce longterm remission), metronidazole (crohns disease, esp for perianal involvement) ■ Total proctocolectomy – cures UC (but reserved for intractable colitis) ■ Recurrence rate higher for Crohns after bowel resection so only do surg if persistent bleeding, abscess, or fistulas that don’t respond to meds j. GI BLEEDING - Dx with FOBT may be false positive if ingested iron, rare red meat, beets, food w high peroxidase (broccoli, cauliflower, cantaloupe); may be false negative if recently ingested large doses of vit C 1) UPPER GI BLEEDING - Newborns: swallow maternal blood from delivery or while nursing on bleeding nipple - Older children: epistaxis - Gastritis, ulcers (H. Pylori, burns, meds, severe illness, meds) - Mechanical injury from vomiting (Mallory Weiss tear) or foreign body ingestion or caustic ingestion - Varices (portal HTN or vascular malformations) - Dx: ABCs if ongoing bleeding, NG aspirate for fresh flood; inspect nose and oropharynx for nonGI sources ■ Labs: Hb, plts, coags, serum transaminase, BUN ■ UPPER INTESTINAL ENDOSCOPY for active bleeding w hemodynamic changes - Tx: ■ Stabilize hypovolemia and anemia IV access w 2 large bores w rapid fluid bolus 20mg/kg of NS ■ Stop bleeding: octreotide (vasopsressin) for varices, abx for h.pylori, PPIs/H2 for gastritits/esophagitis/ulcers 86 ■ Endoscopic therapy for active bleeding or if rebleeding likely, arteriography embolization for serious bleeding from vascular malformation, surgical treatment for duodenal ulcers w active arterial bleeding/perf/varices 2) LOWER GI BLEEDING - NEONATE: NEC, Hirshsprung, volvulus, allergic colitis (cows milk, soy milk, breast milk), swallowed maternal blood - Juvenile polyps (intermittent, streaky, painless) most common cause of lower GI bleed beyond infancy - Meckel’s: painless, acute rectal bleeding due to ectopic gastric mucosa (dx 99 technetium scan) - Infectious colitis: Salmonella, Shigella, Campylobacter, Yersinia, E. Coli - Ischemic disese and vasculitis HUS (MAHA, thrombocytopenia, acute renal failure) or HSP (IgA mediated vasculitis presents w palpable purpuric rash on butt and lower extremities, large joint arthrlagias, renal involvement, GI bleeding from intussusception and bowel perf) LIVER DISEASE - HEPATOCELLULAR ENZYMES: AST (sensitive), ALT (specific), LDH - BILIARY ENZYMES: alkaline phosphatase, GGTP, 5NT - BILIRUBIN: unconjugated, direct/conjugated ■ Elevated bilirubin causes: increased heme load (hemolysis, polycythemia, hematoma), decreased capacity for excretion (hepatitis, liver failure), obstruction of bile flow (biliary atresia, choledochal cyst) - SYNTHETIC FXN: prealbumin, albumin, PT, glucose, cholesterol, lactate, ammonia k. NEONATAL JAUNDICE - Jaundice begins cranially and extends caudally as bilirubin increases 1) UNCONJUGATED BILIRUBIN: physiology, breastFEEDING, breastMILK - Others: inspissated bile syndrome (hemolysis due to ABO incompability or large hematoma), UDP-GUT deficiency deficiency (Gilberts, Criggler-Najjar type 1 AR, Criggler-Najjar type 2 AD) 2) CONJUGATED BILIRUBIN: biliary atresia, neonatal hepatitis l. CHOLESTATIC DISEASE OF INFANT - Retention of bile in liver with elevated conjugated/direct bilirubin - Etiology: infection (hepatitis, viral, sepsis), metabolic derangement (CF, hypothyroidism, galactosemia), extrahepatic mechanical obstruction (biliary atresia, bile duct stricture), intrahepatic mechanical obstruction (Alagille syndrome), idiopathic (neonatal hepatitis), alpha-1 antitrypsin deficiency, TPN associated disease 87 - Clinical fx: jaundice, acholic/light stools, dark urine, hepatomegaly, bleeding, FTT m. BREASTFEEDING FAILURE vs. BREASTMILK JAUNDICE Dx Timing Patho Clinical features BREASTFEEDING FAILURE JAUNDICE -causes: inadequate supply, cracked/clogged nipples, engorgement, infrequent feeding, poor latch, ineffective suck, falling asleep -should have >4-5 wet diapers a day in 1st week of life -should be feeding 15m per breast every 2-3hrs -pt loses >6-7% birthweight, decreased UO, brick red urate crystals in diapers (dehydration); not yet passed yellow-seedy stool First week of life Lactation failure resulting in: -decreased bilirubin elimination -increased enterohepatic circulation -suboptimal breastfeeding -signs of dehydration BREAST MILK JAUNDICE Starts age 3-5 days; peaks at 2 weeks -high levels of b-glucuronidase in breast milk deconjugate intestinal intestinal bilirubin and increase enterohepatic circulation -adequate breastfeeding -normal exam - HEMOGLOBIN CATABOLISM BILIRUBIN unconjugated bilirubin + albumin conjugation by hepatic uridine diphosphogluconurate glucuronosyltransferase conjugated bilirubin deconj by intestinal b-glucuronidase OR reduction by bacterial dehydrogenase unconj bili returns to liver via portal vein OR excreted as fecal urobilinogen - All newborns have mild unconjugated hyperbili bc of the high hb turnover and immature hepatic uridine DPG GUT activity, and bili is usually excreted via stool but decreased feeding can result in bili accumulation 1) At birth, RBC concentration elevated (hct 50-60%) w shorter life span (90 days), resulting in high hb turnover and bilirubin production 2) Bilirubin clearance slow at first bc hepatic UGT doesn’t reach adult levels until 2 weeks; ASIAN newborns have decreased UGT activity compared to other ethnicities 3) Enterohepatic recycling is increased as the sterile newborn gut cant breakdown bili to urobili for fecal excretion; more bili is resorbed in gut and recycled in enterohepatic circulation until gut is colonized and produces bacterial enzymes for reduction to urobili - Direc hyperbili = > 2 conj bili or >20% of total bili n. PHYSIOLOGIC JAUNDICE OF NEWBORN - Benign, resolves by its own by 1-2w - Promote frequent feedings to promote gut colonization and fecal excretion - Phototherapy for kernicterus prevention may be necessary for rapidly rising hyperbili - Exchange transfusions indicated if total bili > 20-25 mg/dL to prevent kernicterus - Causes: increased RBC turnover, decreased UDP enzyme at birth, back up in enterohepatic system) o. BILIARY ATRESIA - Presents in infancy w direct hyperbilirubinemia (>2 mg/dL or >20% total bili), jaundice, hepatomegaly - Biopsy: bile plugs and canalicular ducts, portal tract edema, fibrosis Clinical features INITIALLY WELL APPEARING FOLLOWED BY DEVELOPMENT OF: -jaundice 90 - REYE SYNDROME MAY PRESENT LIKE SYSTEMIC CARNITINE DEFICIENCY (SCD) inherited defect in fatty acid oxidation ■ Clinical picture: hypoglycemia, hyperammonemia, hypoprothrombinemia, acute episodes of encephalopathy ■ Elevated acyl-carnitine levels GENERAL PRINCIPLES (11) CASE 1: FAILURE TO THRIVE CASE SUMMARY - Mother brings 12m old for WCC SGA, weight < 5%ile, length 25%ile, HC 50%ile NEXT STEPS: ask birth, PMH, FH, SH, developmental history DEFINITIONS - FAILURE TO THRIVE: physical sign when child < 3-5%ile, in child < 6m who doesn’t gain weight for 2-3m, or child whose growth crosses 2 major percentiles in short time frame - NONORGANIC FTT: psychosocial; no medical etiology but usually due to poverty, poor caregiver interactions; 1/3-1/2 of the cases - ORGANIC FTT: poor growth due to IBD, renal disease, CHD, (CF) LEARNING POINTS - CAUSES OF INADEQUATE WEIGHT GAIN 1) INADEQUATE CALORIC INTAKE ■ Lack of appetite: depression, chronic dx ■ Ingestion difficulties: feeding disorders, neuro disorders (CP), craniofacial abnormalities, genetic sx, TE fistula ■ Unavailability of food: neglect, inappropriate food for age, insufficient volume 2) ALTERED GROWTH POTENTIAL ■ Prenatal insult, chromosomal anomalies, endocrine disorders 3) CALORIC WASTING ■ Emesis, malabsorption, renal losses (diabetes, RTA) 4) INCREASED CALORIC REQUIREMENTS ■ Increased metabolism (CHD, chronic resp disease, neoplasms, chronic infection, hyperthyroidism) ■ Defective use of calories: metabolic disorders, RTA - Goal of visit is to assess if baby is getting enough calories per feed dietary hx, type of milk, frequency of feeds, voiding patterns, vomiting, stooling; review mixing process for formula to ensure proper dilution (too much water >> formula is common cause of failure to thrive) - Significant food aversions may suggest gastric distress of malabsorption - Can ask patients to write a food diary for 2 weeks to track intake, output, vomiting, etc - Childen w nonorganic FTT may show occipital bald spot from lying in bed and failure to attain appropriate developmental milestones resulting from lack of parental stimulation; disinterest in envmt, avoid eye contact, smiling, or vocalization - Children w organic FTT labs, radiography, TB test may be indicated ■ Common cause is RENAL TUBULAR ACIDOSIS ➔ Proximal tube defects (type 2) due to impaired HCO3 reabsorption ➔ Distal tube defects (type 1) caused by impaired H ion secretion ➔ Type 4 due to impaired ammoniagenesis - Tx: ■ Healthy infants 0-1yo require 120 kcal/kg/d of nutrition and 100 kcal/kg/d after that ■ Encourage high calorie foods, limit low calorie foods 91 ■ Formula w > 20 cal/oz may be required for some children (or Pediasure or Ensure for older kids) ■ Non-organic help: WIC, food stamp program, local food bans ➔ Caregiver help: job training, substance and physical abuse prevention, parenting class, psychotherapy ➔ Early childhood intervention and Head start programs ■ Keep in mind child can have both ORGANIC and NON-ORGANIC causes of FTT (Down syndrome child may have GI and heart issues but also may not bond well w fam) CASE 3: DOWN SYNDROME CASE SUMMARY: - 36yo mom gives birth to 3.9kg girl w decreased tone, upslanting palpebral fissures, epicanthal folds, redundant nuchal skin, 5th finger clinodactyly and brachydactyly and single transverse palmar crease NEXT STEPS - Infant chromosomal evaluation, eval for other features of syndrome, counseling, fam support DEFINITIONS - ADVANCED MATERNAL AGE: >35yo - BRACHYDACTYLY: shortening of hand and foot tubular bones resulting in boxlike structure - CLINODACTLYLY: incurving of digits - SERUM TRISOMY SCREEN: measure AFP (low in DS), hCG, inhibin A, estriol A, usually done at 15-20w gestation identifies 75% DS and 80-90% NTD babies LEARNING POINTS - Features in DS: upslanting palpebral fissures, Brushfield spots (white/grey spots in periphery of iris), flat facial profile, small/rounded ears, excess nuchal skin, widespread nipples, pelvic dysplasia, joint hyperflexibility, fifth finger clinodactyly, single transverse palmar crease, hypotonia, poor Moro reflex, brachycephaly, wide spacing between 1st and 2nd toes, short stature - 50% have cardiac defects: ENDOCARDIAL CUSHION DEFECTS aka COMPLETE AV CANAL >> VSD >> TOF ■ Get cardiology consultation to do Echo stat - 12% have GI defects: DUODENAL ATRESIA (double bubble, polyhydramnios) ■ Surgery - Genetics: complete, extra chromosome 21 (nondysjxn due to failure to segregate during meiosis) in 95% cases - OTHER NEWBORN CONDITIONS: hearing loss, strabismus, cataracts, nystagmus, congenital hypothyroidism ■ Hearing eval at 3m, optho by 6m ■ Thyroid screen is including in newborn screen - LONG TERM RISKS: obesity, ALL, acquired hypothyroidism, atlantoaxial instability (anesthesiology risk!!), premature aging, early Alzheimer disease, MR is common - OTHER SYNDROMES: ■ TRISOMY 18 (EDWARDS): low-set malformed ears, microcephaly, rocker-bottom feet, inguinal hernias, cleft lip/palat, micrognathia, clenched hands with overlapping fingers, short sternum, cardiac defects (VSD, ASD, PDA) ■ TRISOMY 13 (PATAU): SGA, dysmorphic, microcephaly, sloping forehead, cutis aplasia (missing portion of skin/hair) of scalp, polydactyly, holoprosencephaly, micropthalmia, omphalocele, single umbilical artery, hypersensitivity to atropine/pilocarpine, cardiac defects (VSD is most common), deafness, coloboma a. IMMUNIZATIONS 92 - Vaccinations for medically stable preterm infants should be given according to CHRONOLOGIC AGE (not gesrational) - All stable premies should get Hep B at birth (unless infant < 2kg), and Hep B (2nd), rotavirus, tetanus, diphtheria, acellular pertussis, H. Flu type B, pneumococcal and inactivated polio at 2 months chronologic age INACTIVATED/KILLED -polio -hep A TOXID/INACTIVATED -diptheria -tetanus SUBUNIT/CONJUGATED -hep B -pertussis -H Flu type B -Pneumococcal -Meningococcal -HPV -influenza (injection) LIVE ATTENUATED -rotavirus -measles -mumps -rubella -varicella -influenza (intranasal) - CONTRAINDICATIONS TO ROTAVIRUS VACCINE ■ Anaphylaxis to vaccine ingredients ■ Hx of intussusception ■ Hx of uncorrected congenital malformation of GI tract (meckel’s diverticulum) ■ SCID - CONTRAINDICATIONS TO DTAP VACCINE CONTRAINDICATIONS PRECAUTIONS DIPTHERIA/TETANUS ANAPHYLAXIS TO VACCINE INGREDIENTS -moderate/severe acute illness/fever -GBS within 6w of tetanus toxoid containing vaccine -arthrus type hypersensitivity reaction following diphtheria or tetanus toxoid containing vaccine PERTUSSIS -ANAPHYLAXIS -progressive neurologic disorder: uncontrolled epilepsy, infantile spasms -encephalopathy within a week of previous vaccine dose -moderate or severe acute illness or fever -reactions from previous doses: **seizures within 3d **hypotonic/hyporesponsive within 2 d **inconsolable, persistent crying within 2 d b. EMERGENCY FLUID RESUSCITATION - If concerning for hypovolemic or septic shock and requires emergency fluid resuscitation IV access 95 -throws ball - Infant development progresses from cephalic to caudal, from proximal to distal, from stimulus based reflexes to specific, goal-oriented reactions that become increasingly precise w age - By 4m, Moro and grasp have already or are starting to disappear; tongue protrusion reflex should disappear by 4m to allow for coordination to swallow foods; Babinski can persist until 2 years but disappear as early as 1 y f. DEVELOPMENTAL MILESTONES DURING TODDLERHOOD Age GROSS MOTOR FINE MOTOR LANGUAGE SOCIAL/COGNITIVE 12M -stands well -walks first steps independently -throws ball -2 finger pincer grasp -says first words (other than mama/dada) -separation anxiety -follows 1 step command w gesture 18M -runs -kicks ball Builds tower of 2-4 cubes Removes clothing 10-25 word vocabulary Identifies >1 body part Understands MINE -begins pretend play 2Y -walks up/down stairs w both feet on each step -jumps Builds 6 cube tower, copies a line, turns a page 50+ word vocabulary -2 word phrases Follows 2 step command, parallel play, begins toilet training 3Y -awlks up/down stairs w alternating feet -rides tricycle Copies a circle, uses utensils -3 word sentences -speech 75% intelligible Knows age/gender Imaginative play 4Y -balances/hops on 1 foot Copies a square Identifies colors -speech 100% intelligible Cooperative play 5Y -skips -walks backward -copies triangle -ties shoelaces independent dressing/bathing -prints letters -counts to 10 -5 word sentences -has friends -completes toilet training - Premature initiation of toilet training can prolong duration of training - Bedwetting is normal prior to age 5 - Boys toilet train later than girls - Always use positive reinforcement when child succeeds at staying dry HEMATOLOGY AND ONCOLOGY (37) CASE 6: MEGALOBLASTIC ANEMIA CASE SUMMARY: - 6m old fed goats milk - Has megaloblastic anemia from folate/B12 deficiency NEXT STEPS: CBC, peripheral blood smear DEFINITIONS: LEARNING POINTS: - Goats milk low in folate and B12, and iron; must be boiled prior to ingestion to avoid brucellosis - Breastmilk is ideal bc it has IgA, reduces virus and bacteria, antimicrobial, lower incidence of diarrhea, has everything except or vit D (and iron is required after 4-6m age) 96 ■ Down side: no Vit D or fluoride, possible HIV transmission, jaundice exacerbation due to increased unconjugated hyperbilirubinemia (which resolves w 12-48hr breastmilk halt), association w vit K low levels leading to hemorrhagic disease of newborn (prevented by administration of vit K at birth) - Breastfeeding vegan must supplement w B12 to prevent methylmalonic acidemia - Vitamins required for appropriate growth Vitamin Deficiency Excess Vit A Night blindness, xeropthalmia, keratomalacia, conjunctivitis, poor growth, impaired resistance to infection, abnormal tooth enamel development Increased ICP, anorexia, carotenemia, hyperostosis (pain and swelling of long bones), alopecia, hepatomegaly, poor growth Vit D Rickets, osteomalacia, infantile tetany, hypophosphatemia, hypocalcemia, dental caries Hypercalcemia, azotemia, poor growth, nausea and vomiting, diarrhea, calcinosis of variety of tissues including kidney, heart, bronchi, stomach Vit E Hemolytic anemia in premies, altered prostaglandin synthesis Unknown Ascorbic acid (vit C) Scurvy (hematologic abnormalities, edema, spongy swelling of gums, impaired collagen synthesis), poor wound healing Predispo to kidney stones Thiamine (B1) Beriberi (neuritis, edema, cardiac failure), hoarseness, anorexia, restlessness, aphonia -- Riboflavin (B2) Photophobia, cheilosis, glossitis, corneal vascularization, poor growth -- Niacin Pellagra (dementia, dermatitis, diarrhea) Nicotinic acid causes flushing pruritis Pyridoxine (B6) Irritability, convulsions, anemia; in oolder pts on INH, dermatitis, glossitis, cheilosis, peripheral neuritis Sensory neuropathy Folate Megaloblastic anemia, glossitis, pharyngeal ulcers, impaired cellular immunity Usually NONE Cobalamin (b12) Pernicious anemia, neurologic deterioration, methylmalonic acidemia -- Pantothenic acid Rarely deression, hypotension, muscle weakness, abdominal pain -- Biotin Dermatitis, seborrhea, anorexia, muscle pain, pallor, alopecia -- Vit K Hemorrhagic manifestations, prolonged PT, abnormal bone matrix synthesis Water soluble forms can cause hyperbilirubinemia Zinc Skin lesions, poor wound healing, immune dysfunction, diarrhea, growth failure CASE 9: STROKE 2/2 SICKLE CELL DISEASE CASE SUMMARY: - 8yo ED w right sided weakness - Sickle cell hx w multiple hospitalizations for fever or swollen, painful joints NEXT STEPS: admit to ICU + partial exchange transfusion DEFINITIONS: LEARNING POINTS: - Illnesses in SCD patients requiring urgent medical care: ■ Temps > 38.5 due to high risk for sepsis ■ Pain crises – admit if 2 doses of morphine/hydromorphone required to keep pain at bay ■ Acute chest syndrome: chest pain, SOB, severe cough if lower resp sx w hypoxemia and new infiltrate on CXR, admit!! 97 ➔ Tx: O2, hydration, blood transfusion, pain control, antibiotics ■ Acute splenic sequestration: abdominal pain, distension, acute enlargement of spleen admit to obsere for CV collapse ➔ As child grows older, spleen will autoinfarct, increasing risk of encapsulated org infection ■ Acute stroke: paresis, aphasia, seizures, CN palsy, headache, coma emergent neuroimaging warranted as part of WCC, do trans-cranial dopplers to assess blood flow (risk increased if increased flow in large cerebral vessels) ➔ Chronic transfusions may be helpful in pt w hx or high risk of stroke ■ Aplastic crisis: pallor, fatigue, lethargy ➔ Hb below normall baseline and low reticulocyte count ➔ Blood transfusions may be required ■ Priapism: must see urologist if >3-4h ➔ IV hydration and pain control ➔ DO NOT USE ICE ■ Vaso-occlusive crisis: significant vomiting or diarrhea in pt causing dehydration ➔ IVF required - SCD pts require PCV23 at 2yo, w PCV13 is given earlier; CXR is obtained at 2yo and periodically after for screening or recent episode - Pts at higher risk of cholecystitis if RUQ, do abdominal US - All pts must be on penicillin and folate therapy and meningococcal and PSV23 earlier than normal age - CBC and reticulocyte count begin at 2m or at dx CASE 17: ACUTE LYMPHOBLASTIC LEUKEMIA CASE SUMMARY: - 6yo limping and complaining of left leg and knee pain for 1 w - No trauma, PMH neg - No LE swelling, misalignment or weakness - Tenderness over right knee, hepatosplenomegaly, petechiae on cheeks and chest NEXT STEPS: CBC and platelets with differential DEFINITIONS: LEARNING POINTS: - ALL: leg and joint pain, fever, petechiae, hepatosplenomegaly - Leukemia is most common childhood cancer - ALL is 75% of leukemia in children, and AML is 20% of leukemia; ALL most frequently happens in boys - DDx: ITP, aplastic anemia, mono, juvenile rheumatoid arthritis, leukemoid reaction ■ ITP: bruising and petechaie due to low platelet levels ■ APLASTIC ANEMIA: pancytopenia and fever ■ INFECTIOUS MONO: EBV; fever, malaise, adenopathy, splenomegaly, lymphocytosis ■ LEUKEMOID REACTIONS: bacterial sepsis, pertussis, acute hemolysis, granulomatous disease, vasculitis - Bone marrow exam may be required to distinguish ALL from other dx, usually from posterior iliac crest!! ■ Almost ½ children of newly diagnosed leukemia have total leukocyte counts < 10k ■ Normal marrow contains < 5% blasts, minimum of 25% blasts confirms the diagnosis - Approx. 2/3 of children w ALL have leukemic cell karyotype abnormalities uncliding changes in chromosome number (hypodiploidy, hyperdiploidy), or chromosome structure (translocation, deletions, inversions) - Girls have better prognosis; children < 1 or >10 have worse prog, as do leukocyte counts > 50k and pts w T cell immunophenotype vs B precursor ALL - Dx: