Details

Autor(en) / Beteiligte

• De Taevernier, Clémence
• Meunier-Cussac, Sophie
• Madigand, Jeremy

Titel

First episode of psychosis in Kleefstra syndrome: a case report

Ist Teil von

• Neurocase, 2021-05, Vol.27 (3), p.227-230

Ort / Verlag

England: Routledge

Erscheinungsjahr

2021

Quelle

Taylor & Francis

Beschreibungen/Notizen

• 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.