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

Silvia Saottini; Sara Brunetti; Anna Molinaro; Patrizia Accorsi; Annarosa Soresina; Michele Frigerio; Elisa Maria Fazzi

doi:10.1055/s-0044-1788635

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

Autor*innen

Silvia Saottini

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
Sara Brunetti

²Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
Anna Molinaro

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

²Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
Patrizia Accorsi

²Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
Annarosa Soresina

³Unit of Pediatric Immunology, Department of Pediatrics, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
Michele Frigerio

⁴Department of Neuroradiology, ASST Spedali Civili di Brescia, Brescia, Italy
Elisa Maria Fazzi

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

²Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

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

Volltext

Referenzen

References
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