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.
Authors
- Michele Cândida Frigério
- Patrizia Accorsi
- A. Molinaro
- Cesare Sirignano (ORCID: https://orcid.org/0000-0003-4981-7225)
- Sara Brunetti (ORCID: https://orcid.org/0000-0001-9365-8335)
- Silvia Saottini
- Elisa Maria Fazzi
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
- Field-Weighted Citation Impact
- 0.00