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.
- metabolic disease
- eye movements
- cerebellar ataxia
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Contributors ML drafted the article. RHT, KA and TDG revised the manuscript. All authors approved the final version.
Funding This study was funded by Wellcome Trust.
Competing interests RHT has received honoraria and meeting support from Bilal, Eisai, GW Pharma, LivaNova, Sanofi, UCB Pharma and Zogenix. He is an associate editor of Practical Neurology. KA has received meeting support from UCB and Lincoln Medical.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally reviewed by Charlotte Dawson, Birmingham, UK.
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