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68 Cards in this Set
- Front
- Back
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Follicular hyperkeratosis, corkscrew-coiled hair, gingival bleeding, abnormalities at metaphyseal zone of tubular bones and sternal-rib junctions
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Vitamin C Deficiency
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X-ray findings of scurvy
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White line of Frankl, Wimberger ring, Trummerfeld zone of lucency, Pelkan spur, Corner sign
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Vitamin A Deficiency
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Night Blindness, Bitot spots, xerophthalmia, corneal opacities, growth failure, increased susceptibility to infection
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Vitamin A Excess
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Scaly skin, hepatomegaly, pseudotumor cerebri
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Vitamin D Deficiency
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Rickets, hypocalcemia, hypophosphatemia, tetany
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Lab values in rickets
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Low calcium, low phosphorus, high AlkP, low 25-OH vit d, high 1,25-OH vit d, high PTH
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Vitamin E Deficiency
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Neurologic dysfunction, neuroaxonal degeneration, loss of reflexes
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Vitamin K dependent factors
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Factors VII, IX, and X
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Thiamine (Vitamin B1) Deficiency
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Beriberi, para-esthesias, foot and wrist drop, Wernicke encephalopathy (ophthalmoplegia, ataxia, confusion)
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Riboflavin (Vitamin B2) Deficiency
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Cheilosis, sore tongue
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Niacin (Vitamin B3) Deficiency
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Pellagra (dermatitis, dementia, diarrhea)
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Pyridoxine (Vitamin B6) Deficiency
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Seizures
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Zinc Deficiency
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Affects rapidly growing cells, poor growth, diarrhea, rash (acrodermatitis enteropathica), hypogeusia (reduced taste)
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Cobalamin (Vitamin B12) Deficiency
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Megaloblastic anemia
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Best test for diagnosis of chronic vomiting?
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Endoscopy
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Functional Abdominal Pain Clues
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Occurs longer than 3 months, 6-14 yrs, features of abdominal pain, physical and psychological stressors exacerbate pain, normal physical exam without weight loss, stool occult blood neg, normal labs
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Organic Abdominal Pain Clues
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Nighttime awakening, pain localized away from umbilicus, weight loss or FTT, systemic symptoms, sleepiness after attacks, anemia
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VACTERL
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Vertebral anomalies, Anal atresia, Cardiac anomalies, TE fistula, Renal anomalies, Limb anomalies
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Allgrove (Triple A) Syndrome
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Achalasia, alacrima, adrenal deficiency
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Disorders associated with esophageal rupture
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Marfans, Ehlors-Danlos
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Menetrier Disease
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Protein losing enteropathy, stomach fundus and body are folded and swollen, peripheral edema with nausea and vomiting, biopsy shows lont tortuous pits and swollen lamina propria, due to CMV infection
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Tests for H. pylori
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Urea breath test, endoscopy, don't use antibody tests
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Meckel Diverticulum, rule of 2s
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2% of population, 2 feet of ileocecal jxn, 2 in in length, 2cm in diameter, 2:1 M:F, 2 yrs of age
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Test to diagnose Lactase Deficiency (Lactose Intolerance)
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Breath Hydrogen Test
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Hartnup Disease
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Defect in transport of free neutral amino acids, nicotinamide deficiency
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Lowe Syndrome
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Malabsorption of lysine and arginine, mental retardation, cataracts, hypotonia, vitamin D resistant rickets
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Acrodermatitis Enteropathica
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AR, bullous pustular dermatitis, alopecia, blepharitis, conjunctivitis, diarrhea, FTT, presents after stopping breastfeeding
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Vitamins/Minerals absorbed in duodenum
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Iron, Folate, Calcium
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Vitamins/Minerals absorbed in ileum
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Bile Salts, Vitamin B12
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Celiac Disease
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Malabsorptive diarrhea, poor weight gain, abdominal distension, proximal muscle wasting, delayed puberty
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Dermatitis Herpetiformis
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Itchy, bullous lesions on extensor surfaces of arms, legs, trunk, and scalp, with or without systemic symptoms of celiac disease
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Children with which additional diseases should be screened for celiac disease?
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DM, IgA deficiency
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Congenital microvillus inclusion disease
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AR, most common cause of congenital diarrhea, FTT, watery diarrhea, normal absorption, high mortality
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Arthritis findings in UC
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MIgratory, asymmetric, mainly involves hip or knee
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Side Effects of Sulfasalazine
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Nausea and headache
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Side Effects of 6-MP and Azathioprine
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Inhibit proliferation and function of leukocytes leading to leukopenia, elevated LFTs, hypersensitivity rxn manifesting as rash, fever, or pancreatitis
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Side Effects of Cyclosporine
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Liver and renal toxicity, neurotoxicity, hypomagnesemia, HTN, gingival hyperplasia, hirsuitism
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MATCHS
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Macrocephaly, Autosomal dominant, Thyroid Disease, Cancer, Hamartoma, Skin abnormalities
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Ruvalcaba-Myhre-Smith Syndrome
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Macrocephaly, pigmented penile lesions, hamartomatous intestinal polyps, cafe au lait sports, lipomas, retardation, lipid storage abnormality
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Proteus Syndrome
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Hamartomatous polyps, hemihypertrophy, gigantism of extremities, angiomas, pigmented nevi, multiple lipomas or hamartomas
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Common causes of rectal prolapse
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1. Constipation, 2. Diarrhea, 3. CF
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Test to diagnose Hirschsprung's
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Suction rectal biopsy
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Shwachman-Diamond Syndrome
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2nd most common cause of pancreatic insufficiency, associated with short stature, intermittent/persistent neutropenia, skeletal abnormalities
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Johanson-Blizzard Syndrome
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Pancreatic acinar cell hypoplasia with preserved ductal function, agenesis/hypoplasia of nostrils, cardiac abnormalities, hair anomalies, deafness, hypothyroidism, GU defects, developmental delay
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Causes of acute pancreatitis
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Trauma, mumps and other viruses, multi-system disease, congenital anomalies, biliary microlithiasis, drugs for HIV, HUS, Kawasaki, BMT, head trauma
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Cullen Sign
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Bluish discoloration around/near umbilicus - clue for acute hemorrhagic pancreatitis
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Grey Turner Sign
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Bluish discoloration of the flanks, sign of acute hemorrhagic pancreatitis
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Initial diagnostic test for acute pancreatitis
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Abdominal U/S
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Choledochal cysts
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Asian girls, classic triad of abdominal pain, jaundice, palpable RUQ mass, also have fever, nausea, vomiting, pancreatitis, diagnose with U/S
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Caroli Disease/Syndrome
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AR, abnormality of ductal plate, recurrent cholangitis and abscesses
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Alagille Syndrome
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AD, mutation on chromosome 20 in JAG1 gene, peripheral pulmonary stenosis, neonatal cholestasis, paucity of intrahepatic ducts, butterfly vertebrae, abnormal radius/ulna, posterior embryotoxin of eye, prominent forehead, moderate hypertelorism, small pointed chin, saddle or straight nose
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Hepatitis A
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RNA virus, fecal-oral or sexually transmitted, no transplacental transmission, diagnose with titers
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Hepatitis B
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DNA virus, incubation of 1-6 months, associated with polyarteritis nodosa, progresses to cirrhosis and hepatocellular cancer
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Hepatitis C
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RNA virus, extrahepatic disease with small vessel vasculitis, mixed cryoglobulinemia, porphyria cutanea tarda
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Gilbert Syndrome
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Alteration in promoter for bilirubin uridine diphosphate glucuronyl transferase gene (UDP-GT)
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Crigler-Najjar Type 1
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Complete absence of UDP-GT activity, severe indirect hyperbili, no conjugated bili
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Crigler-Najjar Type 2
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Partial activity of UDP-GT, resolves with phenobarbital
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Dubin-Johnson Syndrome
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Deficiency in cMOAT-MRP2 gene, mild conjugated hyperbili
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Reye Syndrome
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Acute liver disease with hyperammonemic encephalopathy, no jaundice, elevated PT, prognosis based on neurologic not hepatic findings
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Wilson Disease
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AR, chronic liver disease, neurologic symptoms, acute hemolysis, psychiatric illness, Fanconi syndrome, unexplained bone disease, screen with ceruloplalsmin
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Progressive Familial Intrahepatic Cholestasis Type 1
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Present between 3-6 mo, conjugated hyperbili, severe pruritis, normal GGT, muation of FIC1 gene, fat soluble vitamin deficiency, persistent diarrhea
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Progressive Familial Intrahepatic Cholestasis Type 2
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No pancreatitis or diarrhea, prominent liver disease with normal GGT
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Progressive Familial Intrahepatic Cholestasis Type 3
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Cholestatis associated with elevated GGT
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Autoimmune Hepatitis Type I
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Females>Males, age 10-20, presents of smooth muscle antibodies or ANA
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Autoimmune Hepatitis Type 2
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Younger children, Males=Females, presence of liver-kidney-microsomal-1 antibody (anti LKM-1), more severe disease
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Primary Sclerosing Cholangitis
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Chronic fibrosing inflammation of intra and extrahepatic bile ducts, associated with IBD, ANCA positive, elevated AlkP and GGT, diagnostic test is retrograde cholangiography
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Extrahepatic Biliary Atresia
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Clay colored (acholic stools), dark urine, hepatomegaly, hyperbili, elevated AlkP, GGT, and transaminases, treat with Kasai procedure
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Hepatoblastoma
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Single masses noted in infancy, elevated alpha fetoprotein
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