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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Rim}}
|QuestionAuthor={{Rim}} {{Alison}}
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Biochemistry
|MainCategory=Biochemistry
Line 23: Line 23:


[[Image:WBR Gaucher Disease.png]]
[[Image:WBR Gaucher Disease.png]]
|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]].
|Explanation=[[Gaucher disease]], an autosomal recessive lyososomal storage disease, is characterized by a deficiency of [[glucocerebrosidase]] and accumulation of [[glucocerebroside]]s. Patients with [[Gaucher disease]] frequently display neurological symptoms, [[hepatosplenomegaly]], and [[aseptic necrosis]] of the [[femur]].  Patients often 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.  
[[Gaucher disease]] is diagnosed upon [[bone marrow biopsy]], which reveals characteristic Gaucher cells, [[macrophages]] that resembling crumpled tissue paper under light microscopy.  


|EducationalObjectives= Gaucher’s disease is an autosomal recessive lyososomal storage disease characterized by deficiency of glucocerebrosidase and accumulation of glucocerebroside.  
|EducationalObjectives= [[Gaucher disease]], an autosomal recessive lyososomal storage disease, is characterized by a deficiency of [[glucocerebrosidase]] and accumulation of [[glucocerebroside]]s.  
|References=
|References= First Aid 2014 page 114


|AnswerA=Ceramide trihexoside
|AnswerA=Ceramide trihexoside
 
|AnswerAExp=Ceramide trihexoside accumulation is characteristic of Fabry’s disease. Fabry’s disease and Hunter’s syndrome are X-linked recessive, while other lyososomal storage disease are frequently autosomal recessive. (Mnemonic: FABulous HUNTER is X-Rated)
|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)
|AnswerB=Glucocerebroside
|AnswerB=Glucocerebroside
 
|AnswerBExp=[[Glucocerebroside]] accumulation is characteristic of [[Gaucher disease]].
 
|AnswerBExp=Glucocerebroside accumulation is characteristic of Gaucher’s disease
|AnswerC=Sphingomyelin
|AnswerC=Sphingomyelin
 
|AnswerCExp=[[Sphingomyelin]] accumulation is characteristic of [[Niemann-Pick disease]].
 
|AnswerCExp=Sphingomyelin accumulation is characteristic of Niemann-Pick disease
|AnswerD=Galactocerebroside
|AnswerD=Galactocerebroside
 
|AnswerDExp=[[Galactocerebroside]] accumulation is characteristic of [[Krabbe’s disease]].
 
|AnswerDExp=Galactocerebroside accumulation is characteristic of Krabbe’s disease
|AnswerE=GM2 ganglioside
|AnswerE=GM2 ganglioside
 
|AnswerEExp=[[GM2-ganglioside]] accumulation is characteristic of [[Tay-Sachs disease]].
|AnswerEExp=GM2-ganglioside accumulation is characteristic of Tay-Sachs disease
|RightAnswer=B
|RightAnswer=B
|WBRKeyword=Gaucher, lyosomal, storage, disease, glucocerebroside, hepatosplenomegaly
|WBRKeyword=Gaucher disease, lyosomal storage disease, glucocerebroside, hepatosplenomegaly, genetics, inheritance, autosomal recessive, accumulation, 
|Approved=No
|Approved=Yes
}}
}}

Revision as of 14:26, 21 July 2014
Author [[PageAuthor::Rim Halaby, M.D. [1] (Reviewed by Alison Leibowitz)]]
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. Fabry’s disease and Hunter’s syndrome are X-linked recessive, while other lyososomal storage disease are frequently autosomal recessive. (Mnemonic: FABulous HUNTER is X-Rated)]]
Answer B AnswerB::Glucocerebroside
Answer B Explanation [[AnswerBExp::Glucocerebroside accumulation is characteristic of Gaucher 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 disease, an autosomal recessive lyososomal storage disease, is characterized by a deficiency of glucocerebrosidase and accumulation of glucocerebrosides. Patients with Gaucher disease frequently display neurological symptoms, hepatosplenomegaly, and aseptic necrosis of the femur. Patients often complain of bone and joint pain crises, especially in the hips and knees.

Gaucher disease is diagnosed upon bone marrow biopsy, which reveals characteristic Gaucher cells, macrophages that resembling crumpled tissue paper under light microscopy.
Educational Objective: Gaucher disease, an autosomal recessive lyososomal storage disease, is characterized by a deficiency of glucocerebrosidase and accumulation of glucocerebrosides.
References: First Aid 2014 page 114]]

Approved Approved::Yes
Keyword WBRKeyword::Gaucher disease, WBRKeyword::lyosomal storage disease, WBRKeyword::glucocerebroside, WBRKeyword::hepatosplenomegaly, WBRKeyword::genetics, WBRKeyword::inheritance, WBRKeyword::autosomal recessive, WBRKeyword::accumulation
Linked Question Linked::
Order in Linked Questions LinkedOrder::
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