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USMLE · Question #605
An 18-month-old male is brought to the physician due to mental retardation and abdominal distention. Physical examination reveals enlargement of the liver and spleen. Fundoscopy reveals a cherry red s
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Abnormal Processes
Question
An 18-month-old male is brought to the physician due to mental retardation and abdominal distention. Physical examination reveals enlargement of the liver and spleen. Fundoscopy reveals a cherry red spot on the macula. The most likely other finding in this patient is increased levels of
Options
- Aceramide trihexoside
- Bcerebroside sulfate
- Cgalactocerebroside
- DGM2 ganglioside
- Esphingomyelin
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Topics
#Niemann-Pick disease#sphingomyelin#lysosomal storage disease#cherry red spot