Mania Episode in a Patient with Phelan Mcdermid Syndrome: A Case Report
Journal Title: Peer Reviewed Journal of Forensic & Genetic Sciences - Year 2018, Vol 2, Issue 5
Abstract
Phelan McDermid syndrome is a genetic and neurodevelopmental condition caused by deletion of chromosome 22q13, by loss of genetic material from the terminal end of chromosome 22. The vast majority of affected patients present intellectual disability, with an important impact on learning and language. They may also suffer from muscle pathology, like hypotonia and visual defects. Likewise, they suffer neuropsychiatric issues as seizures and behavioural alterations, as well as autism spectrum disorder features. Atypical bipolar disorder has been described in these patients too. Although the deletion can sometimes be detected by high resolution chromosomal analysis, fluorescent in situ hybridization (FISH) or comparative genomic hybridization (CGH) is recommended to confirm the diagnosis. There is no aetiological treatment for this syndrome. Treatment is based on co-morbid pathologies and symptomatic management, although new treatments are being studied.
Authors and Affiliations
Gonzalo Salazar de Pablo, Julio David Vaquerizo Serrano
Keywords
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- EP ID EP644843
- DOI 10.32474/PRJFGS.2018.02.000150
- Views 188
- Downloads 0
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