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

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

Publication History

Received: 06 April 2024

Accepted: 29 June 2024

Article published online:
31 July 2024

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