First episode of psychosis in Kleefstra syndrome: a case report

ABSTRACT

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.

KEYWORDS:

• Kleefstra syndrome
• first episode of psychosis
• ehmt1
• intellectual disability
• genetic syndrome

Disclosure statement

The authors declare no conflict of interests.