Peds Highlights

mikenakhla's version from 2016-07-24 18:47



Question Answer
• Breastfeeding failure jaundice vs breast milk jaundice timing?breastfeeding failure jaundice is within first week, other one is after first week.
• Percocious puberty, café au lait spots, and bone defectsmccune albright syndrome
• Babies with galactosemia are at increased risk fore coli neonatal sepsis
• Uridyl diphosphate galactose-4 epiramase deficiency have galactosemia symptoms plusnerve deafness and hypotonic
• Galactokinase deficiency symptoms?cataracts only, otherwise asymptomatic
• Strabismus after what age is abnormal? What do you do?4 months. Patch the normal eye
• Single painful lytic bone lesion with swelling and hypercalcemia in a child?Langerhans cell histiocytosis. Locally destructive tumor that resolves spontaneously
• Triad of cataracts, PDA, and sensorineural hearing loss congenitallyrubella. Best way to protect is maternal vaccination prior to conception
• Beckwith Wiedemann syndromeovergrowth disorder, patients predisposed to neoplasms because of a lot of IGF-2. Macroglossia and macrosomia at birith with hemihyperplasia (half of them is bigger than the other) and wall defects
• Which tumors are patients with beckwith wiedemann at increased risk of developing?wilms tumor (kidney) and hepatoblastoma
• Macrocytic Pure red cell aplasia with congenital anomalies (short stature, webbed neck, cleft lip, shielded chest, triphalangeal thumbs)DBS (diamond blackfan syndrome)
• Rocker bottom feet, overlapping fingers, microcephaly, absent palmar creases - what is this and what heart defect occompanies it?Edward syndrome trisomy 18, VSD
• Small head, prominent occiput, low set malformed ears, clenched hand with overlapping fingersEdward syndrome (trisomy 18)
• Mental retardation, holoprosencephaly, rocker bottom feet, deafess, myelomeningocele, cardiovascular abnormalitiespatau syndrome (trisomy 13)
• Congenital cataracts and neonatal sepsis with vomiting after breast feeding?galactosemia. Avoid foods containing lactose and galactose
• Congenital hyperuricemia. Mental retardation and self mutilating behaviors.Lesch-Nyan syndrome. Deficiency of HGPRT enzyme
• Conjunctivitis 2-5 days after birth? 5-14 days? How do you treat each?Gonorrhea (usually a lot of swelling and profuse discharge) treatiwth IV or IM ceftriaxone or cefotaime). Chlamydia if longer, treat with oral erythromycin.
• Abdominal pain, jaundice, and a palpable mass in a kid, can be congenital or acquiredbiliary cyst, treat with surgery
• Loss of reflexes, hepatosplenomegaly, cherry red macula and regression of development. What is this and what's the other disease that's similar to it and its enzyme deficiency?niemann pick sphingomyelinase deficiency. Tay sachs is like it but no hepatosplenomegaly and they're hyper reflexic and that's beta hexosaminidase A deficiency
• Basically niemann pick without the splenomegaly or reflex stuffkrabbe disease, galactocerebrosidase deficiency
• Glucocerebrosidase deficiency? Galactocerebrosidase deficiency?gaucher, krabbe. Gaucher is anemia, thromocytopenia, hepatosplenomegaly
• Lysosomal hydrolase deficiency, coarse facial fetures, hernias, corneal clouding, hepatosplenomegalyhurler syndrome
• Clubfoot at birth, how do you treat?this is "talipes quinovarus" aka club foot. Stretch and manipulate the foot and then serially cast it. Surgery if this doesn't yield good results
• Herpangina vs herpetic gingivostomatitis?herpangina caused by coxsackie A virus, other is HSV type I. Herpangia has gray vesicles and ulcers at the back of the throat and is treated supportively. The other is vesicles in the anterior oropharynx and treated with acyclovir
• Treatment for precocious puberty if no underlying cause is found?give LONG ACTING GnRH agonists to suppress progression of puberty to prevent premature epiphyseal closure with short stature
• Turner sydrome cardiovascular abnormalities?bicuspid aortic valve, coarctation of the aorta, aortic root dilation
• Diagnosis of laryngomalacia?laryngoscopy. Usually self resolves by 18 months
• Doll like faces, enlarged liver/kidneys and protuberant abdomen, hyperlipidemia, lactic acidosis.Glucose 6 phosphatase deficiency, aka Von Gierke disease
• Usually presents with hepatomegaly and "floppy" baby, macroglossia, heart failure due to progressive HCMPompes' disease, another glycogen storage disease due to acid maltase deficiency
• Glycogen storage disease with elevated liver enzymes with splenomegaly and normal kidneysglycogen debranching enzyme deficiency
• Painless bloody stools in a neonate who appears well otherwise. Regurgitates milk, can have eczema, resolves spontaneously within a yearmilk or soy protein proctocolitis. Eliminate maternal dairy or soy products or switch to hydrolyzed formula
• Any male adolescent with epistaxis, localized mass in nose, and bony erosions at the back of the nose asangiofibroma until proven otherwise
• Erythromycin ophthalmic ointment can prevent neonatal ___ but not ____gonorrhea, but not chalmydial. Mom needs to be tested at first prenatal visit and treated with oral erythromycin. Associated with infantine pyloric stenosis but benefits outweigh the risks
• Continuous murmur heard all over the chest, what is this and what do you see on X ray?this is coarctation of the aorta, and you see rib notching
• Episodes of apnea caused by frustration/anger/pain. Usually benign. Two types?this is a "breath holding spell". There are cyanotic and pallid (pale) types, which happen after crying and minor trauma respectively. Associated with iron deficiency annemia for some reason.
• Management for intussusception?air or water soluble contrast enema.
• Biopsy findings with Reye syndromemicrovesicular steatosis
• Abdominal mass that CROSSES THE MIDLINE in a kid. Often accompanied with systemic symptoms.neuroblastoma. If asymptomatic or hematuria, it's wilms tumor
• Evaluation for development dysplasia of the hip?ultrasound if less than 6 months, X ray if 4-6 months. Refer to orthopedic surgeon. Treatment less than 6 months is the pavlik hip harness.

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