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mikenakhla's version from 2016-05-20 20:37

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• Healthy appearing neonate with asymptomatic blotchy erythematous papules and pustules shortly after birth sparring palms and solesETN (erythema toxicum neonatorum). This is not "toxic" at all, it's benign and goes away on its own
• Newborn with conjugated hyperbilirubinemia and hepatomegaly, jaundice, what do you think of?biliary atresia. Early tx with kasai procedure improves outcome
• Gilbert syndrome and crigler najjar are inherited deficiencies of UDP-glucuronyl transferase resulting in what type of hyperbilirubinemia?unconjugated (b/c they can't conjugate, duh). Crigler najjar enzyme is absent, gilbert's is just a deficiency
• Bulging fontanelles 6 day old baby letharging, poor feeding, mom didn't get good prenatal carethink GBS causing meningitis and sepsis
• Most common causes of neonatal sepsis?GBS and e coli
• Flat facies, limb deformity and pulmonary hypoplasia resulting from oligohydramnios (posterior urethral valves maybe)potter sequence
• IBD then alk phos elevation, pANCA positive, ESR elevatedPrimary sclerosing cholangitis. Inflammation, fibrosis, stricturing of medium/large bile ducts
• Breastfeeding failure jaundice vs breast milk jaundice timing?breastfeeding failure jaundice is within first week, other one is after first week.
• Pathophysiology of breastfeeding failure jaundice?lactation failure resulting in decreased bilirubin elimination
• Pathophysiology of breast milk jaundice?high levels of B glucoronidase in breast milk deconjugates intestinal bilirubin
• Treatment of breastfeeding failure jaundice?increase breastfeeding frequency. DON’T STOP BREASTFEEDING
• Children of pregnant women taking this pre-natal vitamin thinking it's candy and get hematemsesis, shock, metabolic acidosis, abdominal pain. What is this and how do you treat it?iron poisoning, treat with deferoxamine, iron binder
• Iron supplementation and vitamin D is started at birth in which infants?those that are exclusively breastfed
• Stridor, wheezing, cough with dysphagia, stridor improves with neck extention onlyvascular rings encircling the trachea/esophagus due to abnormal aortic arch development
• Stridor improving with neck extention and held prone?laryngomalacia
• Percocious puberty, café au lait spots, and bone defectsmccune albright syndrome
• What effect does human milk have on the GI tract relative to formula?absorbs better and improves gastric emptying
• Vesicoureteral reflex is a risk factor for recurrent UTIs, what happens if it's left untreated?progressive renal scarring
• Bilateral cataracts, jaundice, and hypoglycemia in a newborn. What is this? What enzyme deficiency causes it?galactosemia, galactose-1-phosphate uridyl transferase deficiency
• Babies with galactosemia are at increased risk fore coli neonatal sepsis
• Uridyl diphosphate galactose-4 epiramase deficiency have galactosemia symptoms plusnerve deafness and hypotnoia
• Galactokinase deficiency symptoms?cataracts only, otherwise asymptomatic
• Flat blue grey patches on lower back and butt of a baby, usually with african, asian, hispanic kids. What is this?mongolian spot aka dermal melanocytosis. It's benign
• 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)
• Horseshoe kidneys, absent thumbs, café au lait spots microcephaly, progressive pancytopenia and macrocytosisFanconi anemia
• Newborn chokes and coughs during first feed. Attempts at ng tube insertion will faile.esophageal atresia with TE fistula
• "double bubble sign"air in stomach and proimal duodenum, seen with duodenal atresia in babies.
• Scaphoid appearing abdomen and cyanosis and respiratory distress immediately after birthcongenital diaphragmatic hernia
• Recurrent intussusception, think of thisMeckel's diverticulum.
• "streak ovaries"turner syndrome.
• Rocker bottom feet, overlapping fingers, microcephaly, absent palmar creases - what is this and what heart defect occompanies it?Edward syndrome trisomy 18, VSD
• Osteonecrosis of femoral head in kids causing knee pain and gaitlegg calve perthes disease
• Contraindications to rotavirus vaccine?hx of intussusception, hx of congenital malformations of GI tract, SCID
• Quantitative Pilocarpine iontophoresis akasweat chloride testing for CF
• Most common cause of bacterial meningitis in kids/adults. This one has a petechial or purpura rashNeisseria meningitides
• By 12 months, weight should ____ and height should ____triple, increase by 50%
• Late onset congenital adrenal hyperplasia vs classic?late onset don't have electrolyte abnormalities, just the precocious puberty, acne, advanced bone age and all that
• Potential cause of stroke in children associated with trauma to soft palate with a foreign body?internal carotid artery dissection
• How do you know if jaundice is physiologic or pathologic? What are the levels?bilirubin less than 12 for full term babies that returns to normal by 2 weeks. In premature babies, less than 15 and may be elevated for 3 weeks. But ANY JAUNDICE PRESENT AT BIRTH IS PATHOLOGIC
• Treatment for breastmilk jaundice?stop breastfeeding until jaundice resolves
• Treatment for jaundice? What if it's higher than 20?phototherapy, exchange transfusion if that high
• PDA with cyanosis, what do you think of and what should you do?PDA normally isn't cyanotic, so if he has this and he is, he has a second defect (one of the T's). Give prostaglandin to keep the PDA open. Indomethacin would KILL HIM
• Painless hematochezia in a 2 year old or younger?meckel's diverticulum
• Primary amenorrhea with poor development of secondary sexual characteristics (eg breasts and pubic hair). How do you evaluate this?FSH levels, then pituitary MRI if FSH is decreased. If FSH is increased, karyotyping
• Small head, prominent occiput, low set malformed ears, clenched hand with overlapping fingersEdward syndrome (trisomy 18)
• Mental retardation, holoprosencephaly, cleft palate/lips, rocker bottom feet possible, deafess, myelomeningocele, cardiovascular abnormalitiespatau syndrome (trisomy 13)
• Buccal smear with Turner syndrome patient revealsabsent barr bodies
• Deletion of short arm of chromosome 5 causing severe mental retardationcri du chat
• Congenital cataracts and neonatal sepsis with vomiting after breast feeding?galactosemia. Avoid foods containing lactose and galactose
• Hypopigmented skin macules, seizures, mental retardation, CNS tumors, renal tumorstuberous sclerosis, auto dominant.
• Congenital hyperuricemia. Mental retardation and self mutilating behaviors.Lesch-Nyan syndrome. Deficiency of HGPRT enzyme
• Defect in Marfan's?abnormal microfibrilin protein.
• Newborn, Jaundiced, elevated TsH, low t4, what is this?congenital hypothyroidism most commonly due to thyroid dysgenesis
• 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.
• Crepitus over clavicle in newborn. Pain with passive movement of extremity and asymmetric moro reflexclavicular fracture. Increased risk with macrosomia or instrumental delivery. Resolve on their own
• Treatment of enuresisdesmopressin, if that doesn't work, TCA
• Abdominal pain, jaundice, and a palpable mass in a kid, can be congenital or acquiredbiliary cyst, treat with surgery
• Why do infants with weight under 10th percentile at birth get polycythemia?because of increased EPO secretion in response to fetal hypoxia
• Benign capillary tumors of childhood appear during first week of life and grow rapidly then regress spontaneously. What are these? Some may require treatment with ___superficial hemangiomas. Beta blockers
• Scaphoid abdomen, heart sounds louder in the right chestdiaphragmatic hernia
• Adolescent, headache, visual aura, then hemiplegia?hemiplegic migraine
• Recurrent skin and mucosal infections and periodontal disease but really high leukocytes with neutrophil predominance.leukocyte adhesion deficiency. Delayed umbilical cord separation
• CF patients with meconium ileus, what do you do to manage and this might also be therapeautic?contrast enema. If that doesn't resolve it, surgery.
• White reflex in a baby, what do you doretinoblastoma, refer to an opthamologist
• 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
• Normal internal genitalia, ambiguous external genitalia, clitoromegaly, high level of testosterone and androgenscongenital aromatase deficiency
• What causes the congenital edema in turner syndrome?abnormal development of lymphatic system
• 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
• Genu varumbow legs, associated with vitamin D deficiency (rickets)
• Enlargement of costochondral joints, genu varum in a baby who's just breastfed?rickets
• Bleeding limited to the surface of one cranial bone without discoloration of the scalp. Swelling is not visible until several hours after birth. Does not cross suture lines? Which one does?cephalohematoma. Caput succedaneum is diffuse and sometimes ecchymosis and crosses suture lines.
• Metatarsal adductus, congenital foot deformity. What are the three types and management of each?type I is they over correct on their own, reassure. Type II correct to neutral position, use orthosis or corrective shoes. Type III are rigid feet that don't correct, manage them with serial casts
• What kind of acid base disturbance does pyloric stenosis cause in babies?3-5 weeks, you get projectile NONbilious vomiting causing hypochloremic metabolic alkalosis. Confirm diagnosis with abdominal ultrasound
• Excessive intake of cow's milk can causeiron deficiency anemia.
• Most common cause of anemia in preterm infants?anemia of prematurity, caused by decreased EPO levels.
• Recurrent self limiting vomiting episodes of vomiting and nausea without an apparent cause. Famiy history of migraines often presentcyclic vomiting syndrome
• Unimmunized mom, umbilical cord stump infection, poor sucking then rigidity, spasmsneonatal tetanus
• 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. THIS IS "HAND FOOT MOUTH" syndrome if it progresses to hands and feet. Herpetic gingivostomatitis is vesicles in the anterior oropharynx and treated with acyclovir
• Gray vesicles on the tonsillar pillars and posterior oropharynx with fever and sore throat. Whta is this?herpangina, coxsackie A virus. Clusters on the lips would make you think herpetic gingivostomatitis caused by HSV I
• Palpable purpura, abdominal pain, arthrlagias, renal involvementIgA mediated vasculitis of HSP
• Platelet count in HSP?NORMAL
• When do you worry about hearing loss?congenital TORCH infections, after a bout of meningitis, measles, mumps. Chronic recurrent otitis media, aminoglycoside use
• Should infants who are exclusively breastfed take iron supplements?no, just those who are NOT exclusively breastfed. Full term infants at 4-6 months. In preterm infants, start iron at 2 months (usually in formulas and cereals)
• Which infants should get vitamin D supplements?those that are breastfed at all. They should take them until they are weaned and consume formula or whole milk
• Café au lait spots, fibrous displasia, precocious puberty possiblemccune albright syndrome
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