Ghulam Mustafa, Pervez Akber Khan, Waqar Rabani, Mohammad Azam, Fauzia Waqar, Mohammad Ahsan Beg.
Niemann-Pick Disease-Type A - Case Report.
Pak Paed J Jan ;27(3):139-41.

Niemann Pick Disease (NPD) represents a type of lysosomal storage disease in which sphinghomyelin accumulates in the histiocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, mental retardation and cherry red spots in the eyes. His clinical features and liver biopsy conformed to the type A subgroup of Niemann Pick disease.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com