title: Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.
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.
authors.affiliation: Department of Neurology, Kasturba Medical College, Manipal, Karnataka, India.
authors.forename: Suresh
authors.initials: S
authors.lastname: Pandi
authors.forename: Vijay
authors.initials: V
authors.lastname: Chandran
authors.forename: Anirudda
authors.initials: A
authors.lastname: Deshpande
authors.forename: Annamma
authors.initials: A
authors.lastname: Kurien
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy; D005959:Glucosidases / Q000627:therapeutic use; D006801:Humans; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D013108:Sphingomyelin Phosphodiesterase / Q000627:therapeutic use
chemical_list: D013108:Sphingomyelin Phosphodiesterase; D005959:Glucosidases