Friday, April 27, 2012

Niemman-Picks Disease

Lysosomal storage dx
Deficiency of Sphingomyelinase
Cherry-red spot on Macula
Hepatosplenomegaly
Aut recessive
Common in Ashkenazi Jews
5month old infant experiences regression in developmental milestones.

No Man Picks his nose with his Sphingers without Regressing!

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