ABSTRACT
Distinct mutations have been found in the ethnic groups in which Niemann-Pick disease is common. The acute infantile form of Niemann-Pick disease usually presents first with massive enlargement of the liver and spleen. At least one patient with Niemann-Pick disease was thought, on biopsy, to have glycogenosis. Jaundice is a common terminal finding and some patients have developed disseminated intravascular coagulopathy. Niemann-Pick disease is transmitted as an autosomal recessive disease. The molecular genetics of Niemann-Pick disease proceeded rapidly once the gene was sequenced and DNA probes became available. The phenotype–genotype correlations are useful in counseling the parents of newly diagnosed patients, at least in the populations where mutations are common. Bone marrow transplantation has been reported as being without effect on the neurologic picture of the type A disease, though there may be reduction in the size of the liver and spleen.
