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Niemann-Pick type C: Contemporary diagnosis and treatment of a classical disorder

Lookup NU author(s): Dr Meher Lad, Dr Rhys ThomasORCiD, Dr Kirstie Anderson, Professor Tim GriffithsORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 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.

Publication metadata

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

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