The diverse neurological features of Niemann-Pick disease type C: a report of two cases.
Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.
Coleman
R J
RJ
National Hospital for Nervous Diseases, Hospital for Sick Children, London, England.
Robb
S A
SA
Lake
B D
BD
Brett
E M
EM
Harding
A E
AE
D000293:Adolescent; D001921:Brain / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D009542:Niemann-Pick Diseases / Q000145:classification / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000503:physiopathology; D010300:Parkinson Disease / Q000503:physiopathology