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March 3, 2026Journal of Pediatric Neurology0 citations

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

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SBSara BrunettiSSSilvia SaottiniAMA. Molinaro

Key Points

  • Choreiform movement disorder improved significantly with treatment using tetrabenazine, indicating its efficacy.
  • The case reports a unique association between 22q11.2 deletion syndrome and choreiform movements not previously documented.
  • Observational analysis describes this singular case in detail, emphasizing unusual neurological manifestations of the syndrome.
  • Further exploration could establish a link between 22q11.2DS and choreiform symptoms for future management strategies.

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.

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Cite This Study

Brunetti et al. (2026) studied this question.

synapsesocial.com/papers/69a75f11c6e9836116a2a2f7https://doi.org/10.53391/1875-9041.1019
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