{Reference Type}: Case Reports
{Title}: First episode of psychosis in Kleefstra syndrome: a case report.
{Author}: De Taevernier C;Meunier-Cussac S;Madigand J;
{Journal}: Neurocase
{Volume}: 27
{Issue}: 3
{Year}: 06 2021
{Factor}: 0.781
{DOI}: 10.1080/13554794.2021.1905851
{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.