WBR0422

Author	[[PageAuthor::Rim Halaby, M.D. [1]]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Biochemistry
Sub Category	SubCategory::Hematology
Prompt	[[Prompt::A mother brings her 6-month-old male to the pediatrician's office for evaluation, concerned by an abdominal mass she palpated while showering her child. Upon physical examination, you note hepatosplenomegaly. A bone marrow biopsy reveals the finding illustrated in the image below. Lab work-up will most likely reveal an elevated level of which of the following compounds? ]]
Answer A	AnswerA::Ceramide trihexoside
Answer A Explanation	[[AnswerAExp::Ceramide trihexoside accumulation is characteristic of Fabry’s disease. Always remember that Fabry’s disease and Hunter’s syndrome are X-linked recessive, while other lyososomal storage disease are usually autosomal recessive. (Mnemonic: FABulous HUNTER is X-Rated)]]
Answer B	AnswerB::Glucocerebroside
Answer B Explanation	AnswerBExp::Glucocerebroside accumulation is characteristic of Gaucher’s disease
Answer C	AnswerC::Sphingomyelin
Answer C Explanation	AnswerCExp::Sphingomyelin accumulation is characteristic of Niemann-Pick disease
Answer D	AnswerD::Galactocerebroside
Answer D Explanation	AnswerDExp::Galactocerebroside accumulation is characteristic of Krabbe’s disease
Answer E	AnswerE::GM2 ganglioside
Answer E Explanation	AnswerEExp::GM2-ganglioside accumulation is characteristic of Tay-Sachs disease
Right Answer	RightAnswer::B
Explanation	[[Explanation::Gaucher’s disease, an autosomal recessive lyososomal storage disease, is characterized by a deficiency of glucocerebrosidase and accumulation of glucocerebrosides. Patients with Gaucher disease usually have neurological symptoms, hepatosplenomegaly, and aseptic necrosis of the femur. Patients usually complain of bone and joint pain crises, especially in the hips and knees. Gaucher’s disease is diagnosed by bone marrow biopsy that reveals characteristic Gaucher cells, which are macrophages that appear on light microscopy like crumpled tissue paper. Educational Objective: Gaucher’s disease is an autosomal recessive lyososomal storage disease characterized by deficiency of glucocerebrosidase and accumulation of glucocerebroside. References: ]]
Approved	Approved::No
Keyword	WBRKeyword::Gaucher, WBRKeyword::lyosomal, WBRKeyword::storage, WBRKeyword::disease, WBRKeyword::glucocerebroside, WBRKeyword::hepatosplenomegaly
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::