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The diverse neurological features of Niemann-Pick disease type C: a report of two cases
R J Coleman1, S A Robb, B D Lake
1National Hospital for Nervous Diseases, Hospital for Sick Children, London, England.
Abstract:
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.