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

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. PMID: 31243140 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31243140?dopt=Abstract

Source: Practical Neurology - June 25, 2019 Category: Neurology Authors: Lad M, Thomas RH, Anderson K, Griffiths TD Tags: Pract Neurol Source Type: research