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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Rim}}
|QuestionAuthor= {{YD}} (Reviewed by  {{YD}} and  {{AJL}})
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Biochemistry
|MainCategory=Biochemistry
Line 8: Line 8:
|MainCategory=Biochemistry
|MainCategory=Biochemistry
|SubCategory=Hematology
|SubCategory=Hematology
|MainCategory=Biochemistry
|MainCategory=Biochemistry
|MainCategory=Biochemistry
|MainCategory=Biochemistry
|MainCategory=Biochemistry
Line 20: Line 21:
|MainCategory=Biochemistry
|MainCategory=Biochemistry
|SubCategory=Hematology
|SubCategory=Hematology
|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?
|Prompt=A 6-month-old boy is brought by his mother to the pediatrician's office for evaluation. The mother explains that she recently palpated an abdominal mass while showering her child and has been concerned about his health. In the clinic, physical examination is remarkable for hepatosplenomegaly. The patient then undergoes further work-up, and bone marrow biopsy demonstrates lipid-engorged [[macrophages]] under light microscopy upon staining with periodic acid-Schiff (PAS) reagent. Lab work-up in this patient is remarkable for elevated concentration of which of the following compounds?
 
|Explanation=[[Gaucher disease]] is an autosomal recessive lyososomal storage disease caused by mutations in the ''GBA'' gene. It is characterized by the deficiency of [[glucocerebrosidase]] (glucosylceramidase) enzyme activity in peripheral leukocytes and accumulation of [[glucocerebroside]]s. The clinical manifestations of Gaucher disease range from an asymptomatic clinical course to fatal outcomes. [[Gaucher disease]] typically manifests with bone disease (type 1), neurological symptoms (types 2 and 3), hematological disorders ([[hepatosplenomegaly]], thrombocytopenia, and anemia), and [[aseptic necrosis]] of the [[femur]]. Patients may also complain of bone and joint pain crises, especially in the [[hips]] and [[knees]]. On bone marrow biopsy, [[Gaucher disease]] shows characteristic Gaucher cells, which are lipid-engorged [[macrophages]] that resemble crumpled tissue paper under light microscopy upon staining with periodic acid-Schiff (PAS) reagent. Optimal management of Gaucher disease includes enzyme replacement therapy or substrate reduction therapy. Symptomatic management includes splenectomy, blood transfusions, and analgesia for chronic bone pains.
[[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]].
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.  
 
|EducationalObjectives= Gaucher’s disease is an autosomal recessive lyososomal storage disease characterized by deficiency of glucocerebrosidase and accumulation of glucocerebroside.  
|References=
 
|AnswerA=Ceramide trihexoside
|AnswerA=Ceramide trihexoside
 
|AnswerAExp=Ceramide trihexoside accumulation is characteristic of [[Fabry’s disease]].
|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
|EducationalObjectives=[[Gaucher disease]] is an autosomal recessive lyososomal storage disease characterized by deficiency of [[glucocerebrosidase]] and accumulation of [[glucocerebroside]]s.
|References=Pastores GM, Hughes DA. Gaucher Disease In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2000.<br>
Image Attribution: Gaucher disease - very high mag.jpg by user:Nephron licensed under the terms of the GNU Free Documentation License (v1.2) licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.<br>
First Aid 2014 page 114
|RightAnswer=B
|RightAnswer=B
|WBRKeyword=Gaucher, lyosomal, storage, disease, glucocerebroside, hepatosplenomegaly
|WBRKeyword=Gaucher disease, Lyosomal storage disease, Glucocerebroside, Hepatosplenomegaly, Inheritance, Autosomal recessive, Accumulation, Crumpled tissue paper, Macrophages
|Approved=No
|Approved=Yes
}}
}}

Latest revision as of 00:30, 28 October 2020
Author [[PageAuthor::Yazan Daaboul, M.D. (Reviewed by Yazan Daaboul, M.D. and Alison Leibowitz [1])]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Biochemistry
Sub Category SubCategory::Hematology
Prompt [[Prompt::A 6-month-old boy is brought by his mother to the pediatrician's office for evaluation. The mother explains that she recently palpated an abdominal mass while showering her child and has been concerned about his health. In the clinic, physical examination is remarkable for hepatosplenomegaly. The patient then undergoes further work-up, and bone marrow biopsy demonstrates lipid-engorged macrophages under light microscopy upon staining with periodic acid-Schiff (PAS) reagent. Lab work-up in this patient is remarkable for elevated concentration of which of the following compounds?]]
Answer A AnswerA::Ceramide trihexoside
Answer A Explanation [[AnswerAExp::Ceramide trihexoside accumulation is characteristic of Fabry’s disease.]]
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 is an autosomal recessive lyososomal storage disease caused by mutations in the GBA gene. It is characterized by the deficiency of glucocerebrosidase (glucosylceramidase) enzyme activity in peripheral leukocytes and accumulation of glucocerebrosides. The clinical manifestations of Gaucher disease range from an asymptomatic clinical course to fatal outcomes. Gaucher disease typically manifests with bone disease (type 1), neurological symptoms (types 2 and 3), hematological disorders (hepatosplenomegaly, thrombocytopenia, and anemia), and aseptic necrosis of the femur. Patients may also complain of bone and joint pain crises, especially in the hips and knees. On bone marrow biopsy, Gaucher disease shows characteristic Gaucher cells, which are lipid-engorged macrophages that resemble crumpled tissue paper under light microscopy upon staining with periodic acid-Schiff (PAS) reagent. Optimal management of Gaucher disease includes enzyme replacement therapy or substrate reduction therapy. Symptomatic management includes splenectomy, blood transfusions, and analgesia for chronic bone pains.

Educational Objective: Gaucher disease is an autosomal recessive lyososomal storage disease characterized by deficiency of glucocerebrosidase and accumulation of glucocerebrosides.
References: Pastores GM, Hughes DA. Gaucher Disease In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2000.
Image Attribution: Gaucher disease - very high mag.jpg by user:Nephron licensed under the terms of the GNU Free Documentation License (v1.2) licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license.
First Aid 2014 page 114]]

Approved Approved::Yes
Keyword WBRKeyword::Gaucher disease, WBRKeyword::Lyosomal storage disease, WBRKeyword::Glucocerebroside, WBRKeyword::Hepatosplenomegaly, WBRKeyword::Inheritance, WBRKeyword::Autosomal recessive, WBRKeyword::Accumulation, WBRKeyword::Crumpled tissue paper, WBRKeyword::Macrophages
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