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

• Published in: Practical neurology Vol. 19; no. 5; p. 420
• Main Authors: Lad, Meher, Thomas, Rhys H, Anderson, Kirstie, Griffiths, Timothy D
• Format: Journal Article
• Language: English
• Published: England 01-10-2019
• Subjects: 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; dementia; cerebellar ataxia; eye movements; metabolic disease; neurogenetics
• ISSN: 1474-7766
• DOI: 10.1136/practneurol-2019-002236

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.