| Literature DB >> 20069374 |
Mark Walterfang1, Andrew Kornberg, Sophia Adams, Michael Fietz, Dennis Velakoulis.
Abstract
We describe the presentation of an adolescent with juvenile-onset Niemann-Pick disease type C (NPC) who presented with post-ictal psychosis in the context of a developing seizure disorder. After demonstrating mild gait disturbance beginning at the age of 4 years, he was diagnosed with NPC at age 12 on the basis of 95% of cultured fibroblasts staining positive for filipin and a reduced fibroblast cholesterol esterification rate. He then developed a seizure disorder at age 15, where clusters of seizures produced typical psychotic symptoms, including hallucinations and delusions. His seizure disorder responded to valproate, which resulted in a settling of his psychotic symptoms. Whilst post-ictal psychosis is rarely reported prior to the age of 16, NPC in adolescents and adults is particularly psychotogenic and may increase the risk for post-ictal psychosis in the pediatric population.Entities:
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Year: 2010 PMID: 20069374 DOI: 10.1007/s10545-009-9021-x
Source DB: PubMed Journal: J Inherit Metab Dis ISSN: 0141-8955 Impact factor: 4.982