Early infantile form of Niemann-Pick disease type C. Apropos of 2 siblings
Kanoun, N.; Trabelsi, M.; Oueslati, A.; Damergi, R.; Ben Dridi, M.F.; Boudhina, R.; Bennaceur, B.
Annales de Pediatrie 36(5): 335-338
1989
ISSN/ISBN: 0066-2097 PMID: 2742319 Document Number: 327412
We report two cases of Niemann-Pick disease in a sister and brother. Early jaundice was the first manifestation in both cases and was followed by cachexia and a rapidly fatal outcome. Neurologic involvement was obvious in both patients. Biologic phenotype was consistent with a diagnosis of type C sphingomyelinase, although clinical expression was different. These two cases should be classified within the infantile and early forms of Niemann-Pick disease type C. Antenatal diagnosis was performed during a third pregnancy. Enzyme activity assays on a specimen of trophoblast taken at the tenth week of gestation showed the fetus was not affected. This diagnosis was confirmed by a normal clinical evaluation at two months of life, and normal sphingomyelinase activity of cultured skin fibroblasts.