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

Meher Lad; Rhys H Thomas; Kirstie Anderson; Timothy D Griffiths

doi:10.1136/practneurol-2019-002236

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

Journal article

Open access

Peer reviewed

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

Meher Lad, Rhys H Thomas, Kirstie Anderson and Timothy D Griffiths

Practical neurology, Vol.19(5), pp.420-423

10/01/2019

DOI: 10.1136/practneurol-2019-002236

PMCID: PMC6839726

PMID: 31243140

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Abstract

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.

1-Deoxynojirimycin - analogs & derivatives

1-Deoxynojirimycin - therapeutic use

Adult

Female

Humans

Lysosomal Storage Diseases - diagnosis

Lysosomal Storage Diseases - drug therapy

Lysosomal Storage Diseases - pathology

Neurodegenerative Diseases - diagnosis

Neurodegenerative Diseases - drug therapy

Niemann-Pick Disease, Type C - diagnosis

Niemann-Pick Disease, Type C - drug therapy

Skin - pathology

Treatment Outcome

Details

Title: Subtitle: Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
Creators: Meher Lad - Royal Victoria Infirmary
Rhys H Thomas - Royal Victoria Infirmary
Kirstie Anderson - Newcastle University
Timothy D Griffiths - Newcastle University
Resource Type: Journal article
Publication Details: Practical neurology, Vol.19(5), pp.420-423
DOI: 10.1136/practneurol-2019-002236
PMID: 31243140
PMCID: PMC6839726
ISSN: 1474-7758
eISSN: 1474-7766
Grant note: Wellcome Trust
Language: English
Date published: 10/01/2019
Academic Unit: Psychological and Brain Sciences
Record Identifier: 9984627338402771

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