| Literature DB >> 24907221 |
Rushad Patell1, Rupal Dosi1, Harshal K Joshi1, Dennis Storz2.
Abstract
Wilson's disease is a rare metabolic disease involving copper metabolism. Neuroimaging plays an important part in evaluation of patients with a neuropsychiatric presentation. We present a case of a 14-year-old girl with atypical confluent white matter disease and cystic degeneration on MRI, with a rapidly progressive course, who succumbed to complications despite treatment with trientine. Wilson's disease should be considered as a differential for leucoencephalopathy in young patients with progressive neurological disease for its early recognition and optimum outcome. 2014 BMJ Publishing Group Ltd.Entities:
Mesh：
Year: 2014 PMID： 24907221 PMCID： PMC4054122 DOI： 10.1136/bcr-2013-200100
Source DB: PubMed Journal: BMJ Case Rep ISSN： 1757-790X