Type A Niemann-Pick disease.
Niemann-Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread papulonodular lesions. His clinical features conform to the type A subgroup of NPD.
Raddadi
A A
AA
Kingdom of Saudi Arabia National Guard, Health Affairs-Western Region, Jeddah. raddadiaa@ngha.med.edu
Al Twaim
A A
AA
D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000473:pathology*; D012871:Skin Diseases / Q000473:pathology*