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

Fingerprint

Type C Niemann-Pick Disease
Gaucher Disease
Histiocytes
Splenomegaly
Ataxia
Paralysis
Bone Marrow
Therapeutics

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

@article{8f6da840e1844dcbb03040fcc7d31cba,
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.",
author = "Suresh Pandi and Vijay Chandran and Anirudda Deshpande and Annamma Kurien",
year = "2014",
month = "5",
day = "8",
doi = "10.1136/bcr-2014-203713",
language = "English",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "BMJ Publishing Group",

}

Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. / Pandi, Suresh; Chandran, Vijay; Deshpande, Anirudda; Kurien, Annamma.

In: BMJ Case Reports, 08.05.2014.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum

AU - Pandi, Suresh

AU - Chandran, Vijay

AU - Deshpande, Anirudda

AU - Kurien, Annamma

PY - 2014/5/8

Y1 - 2014/5/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84900386761&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84900386761&partnerID=8YFLogxK

U2 - 10.1136/bcr-2014-203713

DO - 10.1136/bcr-2014-203713

M3 - Article

JO - BMJ Case Reports

JF - BMJ Case Reports

SN - 1757-790X

ER -