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Phelan-McDermid syndrome in adult patient with atypical bipolar psychosis repeatedly triggered by febrility.

Jungová, Petra; Cumová, Andrea; Kramarová, Veronika; Lisyová, Jana; Durina, Pavol; Chandoga, Ján; BÓ§hmer, Daniel.
Neurocase; 24(4): 227-230, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30376408
Phelan-McDermid syndrome (PMD) is a rare genetic condition with only a few cases describing patients diagnosed as adults. We describe a long diagnostic odyssey of a 30-year-old woman who was diagnosed with Phelan-McDermid syndrom. Array comparative genomic hybridization analysis confirmed a 22q13.33 deletion, encompassing exon 9-23 of the SHANK3 gene and exon 1 of the ACR gene. We provide an uncommon feature of the disease, where psychotic alteration is repeatedly triggered by the same physical factor in our patient - mild fever episodes.