title: Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome.
abstract: The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.
authors.affiliation: First Department of Psychiatry, Eginition Hospital, Athens University Medical School ; University Research Institute of Mental Health , Athens.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kontoangelos
authors.affiliation: First Department of Psychiatry, Eginition Hospital, Athens University Medical School ; University Research Institute of Mental Health , Athens.
authors.forename: Antonis
authors.initials: A
authors.lastname: Maillis
authors.affiliation: Department of Neurology, General Oncology Hospital, Agioi Anargyroi , Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Maltezou
authors.affiliation: First Department of Psychiatry, Eginition Hospital, Athens University Medical School.
authors.forename: Sofia
authors.initials: S
authors.lastname: Tsiori
authors.affiliation: First Department of Psychiatry, Eginition Hospital, Athens University Medical School ; University Research Institute of Mental Health , Athens.
authors.forename: Charalambos C
authors.initials: CC
authors.lastname: Papageorgiou
keywords: 22q11 deletion syndrome; Velocardiofacial syndrome; dystonia; neuropsychology; psychosis