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

Authors

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

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.

Recommended Citation

Brunetti, Sara; Saottini, Silvia; Molinaro, Anna; Accorsi, Patrizia; Soresina, Annarosa; Frigerio, Michele; and Fazzi, Elisa Maria (2025) "Acute Onset, Relapsing-Remitting Choreiform Movement Disorder in A Girl With 22q11.2 Deletion Syndrome," Journal of Pediatric Neurology: Vol. 23: Iss. 4, Article 3.
DOI: https://doi.org/10.53391/1875-9041.1019
Available at: https://jpn.researchcommons.org/journal/vol23/iss4/3