The juvenile form of Niemann-Pick disease.

Abstract

A new chapter in the history of Niemann-Pick disease opened when Crocker and Farber (1958) published their account of 18 patients and showed how wide the range of variation in the clinical features might be. Up to this time, with the exception of rare adult cases, attention had been confined to the classical infantile form of the disease which presents an almost stereotyped picture of a generalized lipidosis characterized chemically by a large accumulation of sphingomyelin and a moderate excess of cholesterol in the brain and visceral organs. Only one of Crocker and Farber's patients conformed to this type. Although in the majority the first signs of the disease had appeared in infancy, neurological involvement was often delayed, and in several patients life was prolonged into later child- hood or adolescence. In all their cases the diagnos- is had been confirmed by finding Niemann-Pick foam cells in biopsy specimens or after necropsy. The most striking difference from the infantile form was seen in the chemical findings which were available in some of the cases The sphingomyelin content of the brain and individual organs varied considerably in amount from case to case and did not necessarily show an absolute increase over normal. An excess of cholesterol appeared to be a more constant anomaly.