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

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 possibl...

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Bibliographic Details
Published inMental illness Vol. 7; no. 2; p. 5902
Main Authors Kontoangelos, Konstantinos, Maillis, Antonis, Maltezou, Maria, Tsiori, Sofia, Papageorgiou, Charalambos C
Format Journal Article
LanguageEnglish
Published Italy PAGEPress Publications, Pavia, Italy 30.09.2015
Wiley
Subjects
22q11 deletion syndrome
Case Report
dystonia
neuropsychology
psychosis
Velocardiofacial syndrome
neuropsychology
22q11 deletion syndrome
Velocardiofacial syndrome
dystonia
psychosis
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Summary: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.
Bibliography:Conflict of interest: the authors declare no potential conflict of interest.
Contributions: KK designed the study and wrote the first draft of the manuscript; AM and author MM also contributed to the first draft of the manuscript; ST managed the literature searches of the manuscript; CCP had the overall supervision and corrected the final draft.
ISSN:2036-7457
2036-7465
DOI:10.4081/mi.2015.5902