Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. (8th May 2014)

• Record Type: Journal Article
• Authors: Pandi, Suresh; Chandran, Vijay; Deshpande, Anirudda; Kurien, Annamma
• Is Part Of: BMJ case reports. Volume 2014
• Publication Date: 2014-05-08
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2014-203713
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : We describe a patient who presented with a neurovisceral syndrome characterised by ataxia, bulbar dysfunction, supranuclear gaze palsy, splenomegaly and foamy histiocytes in the bone marrow. This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gaucher's disease type 3. We review the presentation of these disorders, with a focus on the neurological features. In addition, we briefly discuss the disease-modifying therapeutic options which have recently become available.