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April 1969

Infantile Niemann-Pick DiseaseA Chemical Study With Isolation and Characterization of Membranous Cytoplasmic Bodies and Myelin

Am J Dis Child. 1969;117(4):379-394. doi:10.1001/archpedi.1969.02100030381001

NIEMANN-Pick disease is an inborn error of lipid metabolism characterized by abnormal accumulation of sphingomyelin in various organs. Crocker1 divided the disease into the following four subgroups based on the combined clinical and chemical studies: classical infantile form (type A), visceral form (type B), subacute or juvenile form (type C), and Nova Scotian variant (type D). This classification seems to be generally accepted, but the well documented adult Neimann-Pick disease2,3 can be added as the fifth form. A recent investigation4 indicated that the deficiency of sphingomyelinase, an enzyme which hydrolyzes sphingomyelin, is the basic enzymatic defect of Niemann-Pick disease. A more comprehensive study5 of this enzyme revealed its deficiency only in the infantile and visceral forms. According to Crocker,1 the classical infantile form is the only one showing increased sphingomyelin in the brain.

A characteristic pathological change of the central nervous system in infantile Niemann-Pick