1. First episode of psychosis in Kleefstra syndrome: a case report
- Author
-
Sophie Meunier-Cussac, Jeremy Madigand, and Clémences De Taevernier
- Subjects
Heart Defects, Congenital ,medicine.medical_specialty ,Psychosis ,Context (language use) ,050105 experimental psychology ,Craniofacial Abnormalities ,03 medical and health sciences ,EHMT1 ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,Intellectual Disability ,Intellectual disability ,medicine ,Humans ,0501 psychology and cognitive sciences ,Child ,Psychiatry ,Kleefstra Syndrome ,First episode ,business.industry ,05 social sciences ,Histone-Lysine N-Methyltransferase ,medicine.disease ,Hypotonia ,Psychotic Disorders ,Female ,Neurology (clinical) ,Chromosome Deletion ,medicine.symptom ,Chromosomes, Human, Pair 9 ,Haploinsufficiency ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2021