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Case Reports
. 2015 Sep 30;7(2):5902.
doi: 10.4081/mi.2015.5902.

Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome

Konstantinos Kontoangelos  1 , Antonis Maillis  1 , Maria Maltezou  2 , Sofia Tsiori  3 , Charalambos C Papageorgiou  1
Affiliations
Case Reports

Acute Dystonia in a Patient with 22q11.2 Deletion Syndrome

Konstantinos Kontoangelos et al. Ment Illn. .

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.

Keywords: 22q11 deletion syndrome; Velocardiofacial syndrome; dystonia; neuropsychology; psychosis.

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Conflict of interest statement

Conflict of interest: the authors declare no potential conflict of interest.

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