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Sudden Infant Death Syndrome (SIDS)
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Sudden Infant Death Syndrome (SIDS)URI? / 2/1000 leading COD in infants 1 mo to 1 year chronic hypoxia? / sleep apnea? / Reduce risk by sleeping in prone position
physiologic jaundice occurs day 3-4 / 8-10mg/dL 2.5 kg infants – 6% have level above ? 12.9 mg/dl –– peak 4th day – cephalopedal progression / increased production, higher hematocrit (40-60 normal), decreased red cell survival (80 days), decreased ligandin, decreased glucoronyl transferase, decreases EH circulation Asian >> Caucasian >> black breastfeed > formula males >> females premature >> term diabetic mother
total bilirubin level rate of rise > 5 mg/dl/day total serum bilirubin > 13 mg in term infant direct serum bilirubin > 2 mg/dl at any time clinical jaundice for > 1-2 weeks in a term infant
excessive RBC breakdown (e.g. sepsis, erythroblastosis) defects in uptake (galactosemia, tyrosinemia, hypo/hyperpituitary, breast milk jaundice, prematurity Presentation: Early: lethargy, poor feeding, loss of Moro reflex (usu. present to 6 months) Later: rigidity, opisthotonos, cry, choreoathetosis, more
(blue light range) changes ZZ to ZE, which is excreted into bile Also converted to lumirubin, which is excreted into the urine Efficiency based on skin exposure, 15-20 cm from baby, eyes patched, turned frequently, bili blankets use fiberoptics and may increase the exposed surface area Exchange transfusion double volume exchange done through the umbilical vein and artery, infection, hypocalcemia, hyperkalemia
conjugated – direct, water soluble Physiologic Jaundice
elevated 1st week 10-30 mg/dl by 10-15 days, continues for 3-12 weeks, levels normalize 48 hrs stopping breast feeding / can occur early – possibly related to dehydration
Most infants have only mild jaundice, observe for late onset of anemia Some develop hyperbilirubinemia and require phototherapy exchange transfusion is needed only occasionally AO is the most common form
Moderate – exchange transfusion Anti-D globulin (RhoGAM), given at 28 weeks and at birth if infant is Rh+ Given to Rh- women who have miscarriages, abortions Kleihauer-Betke test measures amount of fetal Hb in mother [wiki] 1 ml can eliminate 10 ml of antigenic fetal cells Congenital Disorders of Bilirubin Metabolism Crigler-Najjar – infant death absent UDP-glucuronide transferase / unconjugated hyperbilirubinemia / jaundice, kernicterus Gilbert’s disease milder form / unconjugated hyperbilirubinemia / Ddx: hemolysis Treatment: plasmapheresis, phototherapy Dubin-Johnson conjugated bilirubinemia, defective secretion of bile / black liver, obstruction Rotor’s syndrome milder form Pediatric GI Necrotizing enterocolopathy (NEC) 80% are premature / susceptibility requires GI colonization dive reflex lowers perfusion, lowers mucous / enzymes degrade, bacteria invade / perforation / DIC follows necrosis / fibrin covers perforation / pneumatosis intestinalis / multiple segments / reepithelialization 3 days / granulation 8-9 days / scar formation 6 months
90% esophageal atresia w/ tracheal-lower esophageal fistula / H-type compatible w/ life 50% have associated malformations
2-3 wks onset / 80% males / 1/3 first born / 10% associated malformations Cleft palate children with cleft palate or submucosal cleft palate should not have adenectomy because the adenoids help close of nasopharynx during speech Duodenal associated malformations / Down’s syndrome Jejunum/Ileum associated malformations rare / hydramnios / ischemia / acquired in utero / idiopathic < 2yrs old Congenital Malrotations associated with Ladd’s bands (cecum to ULQ, obstruct duodenum) / most cases present with vomiting in first few weeks (can be months, rarely up to 1 year) from Ladd’s band or midgut volvulus / a few remain asymptomatic / all infants with bilious vomiting are malrotation until proven otherwise Congenital annular pancreasmost commonly presents with vomiting from duodenal obstruction Meckel’s diverticulum (1/50) rule of 2’s 50% are gastric epithelium (can be other type) / males > female / 40-90 cm (2 feet) proximal to ileocecal valve on antimesenteric side / remnant of vitelline duct / 2% incidence (90% asymptomatic) fixed duct volvulus inverted lead point intussusception Imaging: pertechnetate Tc-99 scan for gastric mucosal /barium may be useful Complications: bleeding (50%, ulceration from acid), obstruction (25%), intussusception, volvulus, incarceration), perforation (20%) Presentation: bleeding (1st LGI bleed in < 2 yrs), obstruction / may present w/ granuloma at umbilicus / associated malformations? Ddx: celiac disease, others Treatment: resection Hirschprung’s (megacolon) 1 in 5000, 4:1 males aganglionosis with hypertrophy of muscularis occurring in rectum (26%), sigmoid (53%), descending colon (10%) / dilatation of proximal segment / how far did the neurons not get? meconium plug syndrome (not that common) – liberated by barium enema? - 20-25% of neonatal obstructions trisomy 21 / 2.5% w/ megaloureters Presentation: FTT, constipation, distention, vomiting, perforation, enterocolitis / 70% 0-3 months / 10% 4-12 months 17% 1-5 yrs enterocolitis has a 30% mortality; 20-30% of mortality? is GN sepsis (rarely over 2 yrs old, 2/3 under 3 months), 50% pseudomembranous – (maybe C. difficile, other normal flora in many cases) Diagnosis: barium enema (send to pediatric radiologists) anorectal manometry suction biopsy (sub-mucosal plexus, 3-4 cm proximal to pectinate line, don’t do it too distally) full thickness biopsy (myenteric plexus, again use experienced pediatric pathologist, ganglion cells, nerve trunks, etc.) Acquired megacolon Chagas disease - trypanosomes destroy plexi obstruction -neoplasm or inflammatory stricture toxic megacolon - ulcerative colitis or Crohn’s disease psychosomatic disorder
the case against mineral oil – pt’s don’t like leaking, staining clothes stimulant cathartics are not recommended for long term use Lactulose – stool softener / biofeedback has similar success (more cumbersome therapy) Encoprosis (very common) Atresia and stenosis duodenum (most common) / atresia more than stenosis / double-bubble (air in proximal duodenum and stomach, associated with Down’s) Congenital diaphragmatic hernia usually occurs on left, posterolateral defect (foramen of Bochdalek) / heart pushed to the right side / unilateral pulmonary hypoplasia other malformations / eventration (elevated diaphragm with attenuated muscle) / scaphoid abdomen / 100% mortality if left untreated Omphalocele Membrane covering / larger defect, may contain liver / associated abnormalities in 50% (pentalogy of Cantrell: diaphragmatic hernia, cardiac, omphalocele, pericardial defect, sternal cleft) / 1 in 5000 Treatment: fluids, antibiotics, surgery Gastroschisis No membrane covering, thickened bowel / R > L (of cord) / 2-4 cm / less common than omphalocele, intestinal atresia in 10-15% (but no other associations) / complications: hypothermia, hypovolemia, sepsis, metabolic acidosis, NEC, prolonged ileus Treatment: similar to omphalocele (90% survival) Pediatric Liver Disease (see liver) Neonatal hepatitis - good prognosis most common cause of infantile cholestasis / giant cell transformation Extrahepatic biliary atresia fibrosis obliterates bile ducts / bile duct proliferation / biliary cirrhosis w/ remaining parenchyma susceptible to ischemia / Treatment: Kasai procedure, liver transplant Alpha-1-antitrypsin deficiency PiMM is normal genotype / PiS and Piz abnormal / emphysema in adults / chronic liver disease in children / portal hypertension, cirrhosis (50%) / PAS positive globules in periportal hepatocytes Treatment: liver transplantation
fumarylacetoacetate hydrolase def. / death < 1 (acute) <10 (chronic) / fatty change Treatment: transplant
iron overload / liver fibrosis / central vein necrosis / early death / Treatment: transplant Other Causes of Cholestasis Alagille’s syndrome (paucity of ducts) / Byler’s disease / Caroli’s disease / errors of metabolism Congenital Heart Disease ASD, VSD, TOF, transposition, AV valve malformations, PDA, coarctation, Genetic Syndromes Down’s, Turner’s, Edward’s, Marfan’s, Prader-Willi, congenital deafness, JLN, William’s 1 in 50 births / ¼ of all major malformations 1) VSD 2) HLH 3) TOF
ASD Ostium secundum (most common) / Lutembacher’s – secundum defect and acquired MS Ostium primum defect – endocardial cushion / MR Sinus venosus (2-3%) Usually asymptomatic until 40s / DOE, RHF, pulmonary HTN (50% over 40 yrs) Complications: MR, MS, paradoxical embolism,
Supracristal - truncus arteriosis Single ventricle - transposition of great arteries
afterload reduction (nitrates, intra-aortic balloon counterpulsation) repair VSD at earliest sign of heart failure (urgent) Small shunt usually do not repair small defects / small minority can develop TR/AR Moderate shunt catheterization for evaluation and surgical or balloon repair / post-repair residual patency rate (20%), re-operation rate (5%), RBB (30-60%), heart block (10%), SCD (2%) Eisenmenger’s syndrome may occur from ASD > VSD or aortopulmonary shunt / progressive increase in pulmonary vascular resistance leads to reversal of shunting / leads to progressive AR from prolapse of aortic valve leaflet / no longer candidates for surgery, so no need for invasive studies / clubbing in toes > left arm > right arm Ddx (for cyanosis): Ebstein’s anomaly, TOF, truncus arteriosis Truncus Malformations Tetralogy of Fallot (TOF) Dextroposition of aorta (overriding aorta) right ventricular hypertrophy (RVH) pulmonary valve stenosis infracristal VSD cyanosis within 1 day, may be late in TOF (mild case may present up to 2 yrs old) RV tap +/- thrill loud & single S2, +/- murmur EKG shows RAD + RVH (? LVH in pulmonary artery) CXR – boot-shaped heart Echocardiogram - ? TOF hypoxic spells (blue or tet spells) precipitating causes: bowel movement, crying with hunger, finger stick, etc leads to irritability, loss of consciousness, acidosis, tachypnea, air hunger, increasing cyanosis
Treat hypoxic spells (above), PGE1 (opens ductus arteriosis), balloon atrial septostomy surgery – switch (RV is not capable, long term develops aortic insufficiency) venous – mustard or senning arterial – before 2-3 weeks of life
before 6 months – systemic (aorta or subclavian if older) to pulmonary artery shunt (Blalock-Taussig or modification, Waterston-Cooley or modification, Pott’s) after 6 months - corrective surgery (switch has been done 15-18 yrs, so far with good success?) Truncus Arteriosus supracristal VSD / single artery to aorta, lungs / pulmonary HT / death < 1yr Transposition of Great Arteries incompatible with life in absence of communication TGA + Intact ventricular septum male predominance, h/o diabetes, newborn cyanosis TGA + defective septum cyanotic at one month? AV, Semilunar Valve malformations Endocardial cushion defect (foramen primum, VSD, etc.) / Trisomy 21 (Down’s) Endocardial fibroelastosis usually causes CHF in 1st year of life Tricuspid valve atresia all have ASD Presentation: cyanosis or heart failure, overactive cardiac impulse, holosystolic murmur CXR shows prominent RAD, ?EKG RAE, LAD + LVH Treatment: PGE1, decongestive therapy, balloon atrial septostomy, SHUNT, BT SVC to pulmonary artery shunt At 3-4 months, bi-directional Glenn – bring SVC blood into pulmonary arteries At 4-6 months – Fontan procedure - bring IVC blood into pulmonary arteries Ebstein’s anomaly Downward displacement of tricuspid (lithium) ECG: peaked P waves, wide, bizarre QRS Findings: pre-excitation (20%), SVT, Afib/flutter (30-40%) Pulmonary valve stenosis CHF Pulmonary valve atresia – death w/out shunt Mitral valve atresia – hypoplastic LV - fatal Aortic valve atresia – same
- origin from pulmonary artery - angina, MI sooner or later - fistula from coronary artery to right ventricle - L-R, R-L shunt
ductus arteriosus aortic arch obstruction
7% of cardiac malformations / men 2x > women / most common distal to origin of left subclavian / lower incidence of associated intracardiac defects (mostly: gonadal dysgenesis/Turner’s and bicuspid aortic valve and also: aberrant subclavian artery, PDA, VSD, parachute mitral valve, berry aneurysm) Presentation: HTN in upper body, epistaxis, leg claudication Findings: LVH, enlarged collateral vessels in upper body, reduced development of lower limbs; may be no murmur or midsystolic murmur over anterior chest and back Diagnosis: clinical or TEE or CT/MRI of chest Course: leads to CHF early (3-6 months) or late (adulthood) / made worse when ductus closes anomalous venous connection -many types TAPVR (with and without obstruction)
Will be benefit from balloon opening an ASD to allow mixing? Pediatric Neuro Intraventricular (germinal matrix) hemorrhage terminal veins subject to anoxia (or pressure ?) and rupture into ventricles Grade I - IV (IV involves cerebral parenchyma) / associated with RDS
hypoxic-ischemic injury / coagulation, liquefactive necrosis of white matter / effects full-term too Childhood Tumors Unsorted: leukemia CNS lymphoma (Hodgkin’s) Histiocytoses Renal Other hemangioma - appears invasive, but is not neuroblastoma - may regress even w/ mets juvenile melanoma - anaplasia w/out malignant behavior Note: histology and progression do not always correlate
children of any age / solitary form, eosinophilic granuloma occurs in children > 2 yrs Letterer-Siwe (fatal < 2 yrs) Acute disseminated histiocytosis X (type of Langerhans cell histiocytoses) / infancy, behaves malignant although not cytologically malignant / primary visceral RES (lymph nodes, liver, spleen / lungs (diffuse honeycombing) and skin (greasy, scaly, hemorrhagic or petechial, maculopapular, NOT urticarial) [dermis], lytic lesions in skull or long bones / can mimic almost any type of neoplasm Course: death within months left untreated Treatment: responds to vincristine or methotrexate Farquhar’s familial phagocytic reticulocytosis Localized eosinophilic granuloma long bone or rib, necrosis Disseminated eosinophilic granuloma (Hand-Schüller-Christian) bone and viscera, diabetes insipidus Fibromatoses quasi-neoplasia / locally invasive / may recur / do not metastasize Infantile myofibromatosis Multiple (90%) lesions of skin, subcutaneous tissue, soft tissue, bone, viscera Nonossifying fibroma Usually eccentric, can cause deviation of cortex Ossifying fibroma (osteofibrous dysplasia) Almost always < 20 yrs (usually < 10 yrs) Lytic lesions, sclerosis, bowing deformity of tibia / usually tibia/fibula / often intracortical with intramedullary extension
capillary - localized, regression cavernous - not localized, no regression / large vascular sinusoids mixed - not localized, no regression / thrombocytopenia gonadal teratoma (2 tissue layers in pediatrics) ovary - malignant, testis - benign (opposite of adult) sacrococcygeal - females, highly malignant after 4 months old yolk sac tumor - malignant after 1 year / Schiller-Duval bodies / elevated aFP Renal Tumors of Childhood Wilm’s tumor - good prognosis 90% renal tumors in < 5 yrs old / abdominal pain, hematuria, anemia, fever / 10% bilateral pattern: undifferentiated, epithelial, stromal or anaplastic associated with aniridia (20% will have Wilm’s tumor, absence or hypoplasia of iris) Radiology: distorts renal image (whereas neuroblastoma will displace entire kidney downward) Congenital mesoblastic nephroma most common congenital renal tumor / appears early nephroblastomatosis - trisomy 18 / diffuse, subcapsular clusters / good survival clear cell sarcoma rhabdoid tumor
Childhood (< 5 yrs) tumor of adrenal medulla, abdomen, mediastinum / secrete NE Location: adrenal > abdomen, pelvis > cervical, thorax Labs: VMA, HVA, n-myc are elevated Pathology: Homer-Wright pseudorosettes surround a central fibrillar material / mitoses present small blue cell tumor / widespread mets Course: spontaneous regression (even stage IVs with micromets) / may differentiate to ganglioneuroma (benign) primary tumor abdominal mass, RDS, paralysis, bowel/bladder dysfunction, Horner’s, heterochromia of iris (affected side), incidental finding on CXR metastatic hepatomegaly, bone pain (up to 50% of cases involve bone diffusely), ecchymoses, subcutaneous nodules (purpuric rather than diffuse, greasy as in histiocytosis), anemia, fever, FTT paraneoplastic VIP (diarrhea, abdominal distension), opsonoclonus (myoclonus, cerebellar ataxia), catecholamine overproduction Ganglioneuroblastoma nodular, intermixed, borderline (more NB component) Ganglioneuroma - prognosis? posterior mediastinum / differentiated, benign / plasma, lymphocyte infiltrate / may occur in isolation or as part of MEN III Craniopharyngiomas rare - benign but invasive tumor of children (7-12 yrs) / increased ICP, calcifications of sella turcica (75%), visual deficits, endocrine dysfunction (most common pituitary tumor in children, causes growth failure) / post-surgical radiation Other Childhood Tumors Hepatoblastoma - poor prognosis < 2-3 yrs old / hepatocellular or mixed / aggressive, lung mets / 30-50% 5 yr survival in young children with surgery (slower metastasis in children) and chemotherapy / Labs: elevated a-FP and AP / associated with hemihypertrophy, Beckwith-Wiedermann syndrome, diaphragmatic and umbilical hernias Rhabdomyosarcoma most common soft tissue sarcoma of childhood / may arise anywhere / 18% mets at presentation orbital, GU primaries do better / relapse carries poor prognosis embryonal rhabdomyosarcoma - better prognosis / younger children / head, neck alveolar rhabdomyosarcoma - worse prognosis / older children Cystic hygroma (benign) lymphangioma of infancy and early childhood / ¾ present in head/neck / easy to diagnose on physical exam do not regress, must be surgically removed Retinoblastoma 40% genetic basis / siblings get eye exams until 7 yrs Genetic Syndromes
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