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

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, presenting with a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestation 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 a relapsing-remitting course.

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Publication Details

Journal
Journal of Pediatric Neurology
Published
2026-01-29
DOI
https://doi.org/10.53391/1875-9041.1019
Primary Topic
Congenital heart defects research
Type
article
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article

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

Michele Cândida Frigério, Patrizia Accorsi, A. Molinaro, Cesare Sirignano et al.
Journal of Pediatric Neurology
Congenital heart defects research
article

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

Michele Cândida Frigério, Patrizia Accorsi, A. Molinaro, Cesare Sirignano, Sara Brunetti, Silvia Saottini, Elisa Maria Fazzi
article en

Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, presenting with a broad spectrum of congenital abnormalities and neuropsychiatric symptoms. Movement disorder is one of the most common neurological manifestation 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 a relapsing-remitting course.

Journal of Pediatric NeurologyVol. 23(4)
Good health and well-being
Openalex Percentile: Top 73%
Congenital heart defects research
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