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

ABSTRACT

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.

KEYWORDS:

• Phelan-McDermid syndrome
• fever
• trigger
• regression
• psychotic alteration

Disclosure statement

No potential conflict of interest was reported by the authors.