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Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1788635
Case Report

Acute Onset, Relapsing–Remitting Choreiform Movement Disorder in A Girl with 22q11.2 Deletion Syndrome

Silvia Saottini
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
,
Sara Brunetti 
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Anna Molinaro
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Patrizia Accorsi
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Annarosa Soresina
3   Unit of Pediatric Immunology, Department of Pediatrics, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
,
Michele Frigerio
4   Department of Neuroradiology, ASST Spedali Civili di Brescia, Brescia, Italy
,
Elisa Maria Fazzi
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
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Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, presenting after a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestations of the syndrome. The literature reports that early Parkinson's disease and dystonia, in particular, are associated with the syndrome. We here describe the first known case of choreiform movement disorder in a girl suffering from 22q11.2DS, responsive to tetrabenazine after relapsing–remitting course.

Keywords

22q11.2 deletion syndrome - movement disorder - chorea


Publication History

Received: 06 April 2024

Accepted: 29 June 2024

Article published online:
31 July 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
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