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…

The correct answer is E. sphingomyelin. This patient most likely has Niemann-Pick disease which is an autosomal recessive lysosomal storage disease caused by a deficiency of sphingomyelinase. Itis more common is Ashkenazi Jews. Deficiency of sphingomyelinase leads to the accumulation of sphingomyelin, progressive…

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

How the community answered

(43 responses)

A
2% (1)
B
5% (2)
C
14% (6)
D
2% (1)
E
77% (33)

Explanation

This patient most likely has Niemann-Pick disease which is an autosomal recessive lysosomal storage disease caused by a deficiency of sphingomyelinase. Itis more common is Ashkenazi Jews. Deficiency of sphingomyelinase leads to the accumulation of sphingomyelin, progressive neurodegeneration, hepatosplenomegaly and lipid laden macrophages also called foam cells. Similar to Tay-Sachs disease, a "cherry-red" spot can be seen on the macula.

Topics

#Niemann-Pick disease#sphingomyelin#lysosomal storage disease#cherry red spot

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