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

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.
PMID: 30376408 [PubMed - as supplied by publisher]

Source: Neurocase - October 30, 2018 Category: Neurology Authors: Jungová P, Čumová A, Kramarová V, Lisyová J, Ďurina P, Chandoga J, Bӧhmer D Tags: Neurocase Source Type: research