title: [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].
abstract: Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms.
authors.affiliation: Klinik für Psychiatrie und Psychotherapie, Universitätsklinikum des Saarlandes. nehkes@uniklinikum-saarland.de
authors.forename: Holger
authors.initials: H
authors.lastname: Kessler
authors.forename: Susanne
authors.initials: S
authors.lastname: Kraft
mesh_terms: D000328:Adult; D014150:Antipsychotic Agents / Q000627:therapeutic use; D001921:Brain / Q000002:abnormalities*; D002220:Carbamazepine / Q000627:therapeutic use; D002872:Chromosome Deletion; D015283:Citalopram / Q000627:therapeutic use; D003192:Compulsive Behavior / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004359:Drug Therapy, Combination; D019066:Facies; D005260:Female; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D006212:Hallucinations / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis* / Q000235:genetics; D019965:Neurocognitive Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D009483:Neuropsychological Tests; D009687:Nuclear Proteins / Q000235:genetics; D018967:Risperidone / Q000627:therapeutic use; D017367:Selective Serotonin Reuptake Inhibitors / Q000627:therapeutic use; D013577:Syndrome
chemical_list: D014150:Antipsychotic Agents; D002220:Carbamazepine; D015283:Citalopram; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D018967:Risperidone; D017367:Selective Serotonin Reuptake Inhibitors; C113272:NSD1 protein, human