Browse by author
Lookup NU author(s): Dr Meher Lad, Dr Rhys ThomasORCiD, Dr Kirstie Anderson, Professor Tim GriffithsORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. A new biochemical test to measure serum cholesterol metabolites supersedes the skin biopsy and is practical and robust. It is treatable with miglustat, a drug that inhibits glycosphingolipid synthesis. We describe a patient, aged 22 years, with juvenile-onset Niemann-Pick type C who presented with seizures and a label of 'cerebral palsy'. We describe the approach to this syndrome in general, and highlight the classical features and red flags that should alert a neurologist to this treatable condition.
Author(s): Lad M, Thomas RH, Anderson K, Griffiths TD
Publication type: Article
Publication status: Published
Journal: Practical Neurology
Year: 2019
Volume: 19
Issue: 5
Pages: 420-423
Online publication date: 26/06/2019
Acceptance date: 08/04/2019
Date deposited: 09/07/2019
ISSN (print): 1474-7758
ISSN (electronic): 1474-7766
Publisher: BMJ Publishing Group
URL: https://doi.org/10.1136/practneurol-2019-002236
DOI: 10.1136/practneurol-2019-002236
Altmetrics provided by Altmetric