%0 Case Reports
%T First episode of psychosis in Kleefstra syndrome: a case report.
%A De Taevernier C
%A Meunier-Cussac S
%A Madigand J
%J Neurocase
%V 27
%N 3
%D 06 2021
%M 34010111
%F 0.781
%R 10.1080/13554794.2021.1905851
%X Kleefstra syndrome (KS) is a genetic syndrome caused by a haploinsufficiency of the EHMT1 gene and characterized by intellectual disability, language disorders, childhood hypotonia and distinct facial features. Only a few cases of first episode of psychosis in KS have already been reported. We describe a young female patient with KS who presented a first episode of psychosis. In a context of an initial diagnosis wavering and a lack of recommendations, this clinical observation illustrates the importance of psychiatric comorbidities and their diagnostic and therapeutic complexity in KS; with a need for multidisciplinary management considering its specific aspects and vulnerabilities.