25. Genetics of GI Disorders Practice Flashcards
A 6 m/o boy is brought in d/t failure to gain weight and has become increasingly weak to the point that he can no longer breastfeed. He is the second son of a healthy caucasian couple, born by vaginal delivery after uneventful pregnancy. PE reveals mild cyanosis, shallow respiration, moderate hepatomegaly, an unusually large tongue, and generalized muscular flaccidity. Labs: normal CBC, electrolytes, glucose, BUN, and creatinine; but CK and alanine aminotransferase (ALT) are high. CXR and echocardiogram show extreme cardiomegaly with outflow tract obstruction and CHF. Muscle and liver biopsy show intracytoplasmic and lysosomal glycogen accumulation. The most likely diagnosis is:
A. Von Gierke disease B. Pompe disease C. Cori disease D. Anderson disease E. Fanconi-Bickel syndrome
B. Pompe
The accumulation of glycogen in lysosomes indicates maltase deficiency
A 2 y/o girl is transferred to the metabolic unit of the hospital d/t failure to thrive and severe fasting hypoglycemia with neurologic sequelae. PE reveals hepatomegaly. Labs: hyperlipidemia and impaired liver and kidney function. A transcutaneous liver biopsy reveals accumulation of excessive amounts of glycogen. Most likely diagnosis:
A. Conn syndrome B. Adrenoleukodystrophy C. Von Gierke disease D. Alzheimer disease E. Dubin johnson syndrome
C. Von gierke disease
A 22 y/o motorcycle accident victim with unknown PMH is brought into the ED with severe head injuries. He is stabilized and brought to the surgical ICU where he is declared braindead. The organ transplant team is contacted and determine that he is an eligible kidney donor. However, he is not eligible for liver donation. Upon entering the abdomen during harvest, the team notices that his liver is black. What is the likely condition this patient had?
A. Criglar Najjar B. Gilbert’s Syndrome C. Dubin-Johnson D. Rotor’s Syndrome E. Impossible to differentiate DJS and Rotor’s based on info provided
C. Dubin-Johnson
[Rotor’s syndrome is milder than DJS and does not cause black liver]
33 y/o female is referred to neurologist by her PCP for unsteady gait, forgetfulness, and recent episodes of tourette-like spells where she will fling one arm out and above her head, seemingly unprovoked. On PE, the neurologist notes that her irises appear multicolored with concentric rings around the periphery. He is concerned for metabolic disease and orders several lab and radiographic studies. In the interim he has advised her to avoid eating chocolate and shellfish. What is his most likely suspicion at this point?
A. Criglar Najjar B. Gilbert’s Syndrome C. Dubin-Johnson/Rotor’s Syndrome D. Wilson’s disease E. PEPCK deficiency F. Von Gierke’s disease
D. Wilson’s disease
An infant is brought to the pediatrician by his parents because they are concerned about the yellow color of his skin and general behavior changes. They report that he has seemed more tired and weak with his arms just flopping down by his side instead of him reaching for his toys. The parents are known to be first cousins. What does this patient likely have?
A. Criglar Najjar B. Gilbert’s Syndrome C. Dubin-Johnson/Rotor’s Syndrome D. Wilson’s disease E. PEPCK deficiency F. Von Gierke’s disease
A. Criglar Najjar
A 24 y/o 3rd year med student is two weeks into her first surgery rotation when her senior resident tells her that her eyes look a little yellow. She experienced her first needle stick injury in the OR just one week earlier and begins to worry about hepatitis. Other than rarely having the time to eat at work, she has no other complaints or symptoms. What does she likely have?
A. Criglar Najjar B. Gilbert’s Syndrome C. Dubin-Johnson/Rotor’s Syndrome D. Wilson’s disease E. PEPCK deficiency F. Von Gierke’s disease
B. Gilbert’s syndrome
