Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum

Suresh Pandi, Vijay Chandran, Anirudda Deshpande, Annamma Kurien

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
JournalBMJ Case Reports
DOIs
Publication statusPublished - 08-05-2014

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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