Type C Niemann-Pick disease: report of a Chinese case
Lyu, R.K.; Ko, Y.M.; Hung, I.J.; Lu, C.S.
Journal of the Formosan Medical Association 92(9): 829-831
1993
ISSN/ISBN: 0929-6646 PMID: 7904866 Document Number: 407872
We report on a 12-year-old Chinese child with type C Niemann-Pick disease, who presented primarily with neurologic symptoms. He started to develop ataxia and dysarthria at the age of six years. Dementia, dysphagia, dystonia and seizures, in that sequence, followed within a couple of years. He was anarthric and bedridden five years after onset. Supranuclear vertical gaze palsy was found at the beginning of the illness. However, no hepatosplenomegaly or other physical abnormality was noted. Bone marrow aspirates revealed foamy storage cells and sea-blue histiocytes. However, sphingomyelinase activity in the cultured skin fibroblast was normal. The characteristic clinical presentations and typical pathologic and histochemical findings meet the diagnostic criteria of type C Niemann-Pick disease. We report the first Chinese case of type C Niemann-Pick disease and review 73 cases reported previously.