Journal of Pediatric Neurology
DOI: 10.1055/s-0044-1788635
Case Report

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

Silvia Saottini
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
,
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Anna Molinaro
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Patrizia Accorsi
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
,
Annarosa Soresina
3   Unit of Pediatric Immunology, Department of Pediatrics, ASST Spedali Civili of Brescia, University of Brescia, Brescia, Italy
,
Michele Frigerio
4   Department of Neuroradiology, ASST Spedali Civili di Brescia, Brescia, Italy
,
Elisa Maria Fazzi
1   Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2   Unit of Children and Adolescent Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy
› Institutsangaben

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.



Publikationsverlauf

Eingereicht: 06. April 2024

Angenommen: 29. Juni 2024

Artikel online veröffentlicht:
31. Juli 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
  • References

  • 1 McDonald-McGinn DM, Sullivan KE, Marino B. et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071
  • 2 Bayat M, Bayat A. Neurological manifestation of 22q11.2 deletion syndrome. Neurol Sci 2022; 43 (03) 1695-1700
  • 3 Butcher NJ, Kiehl TR, Hazrati LN. et al. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol 2013; 70 (11) 1359-1366
  • 4 Cunningham AC, Fung W, Massey TH. et al. Movement disorder phenotypes in children with 22q11.2 deletion syndrome. Mov Disord 2020; 35 (07) 1272-1274
  • 5 Baizabal-Carvallo JF, Cardoso F. Chorea in children: etiology, diagnostic approach and management. J Neural Transm (Vienna) 2020; 127 (10) 1323-1342
  • 6 Suresh N, Garg D, Pandey S. et al. Spectrum of movement disorders and correlation with functional status in children with cerebral palsy. Indian J Pediatr 2022; 89 (04) 333-338
  • 7 Fernandez R, Ashraf A, Dure LS. Nutritional vitamin D deficiency presenting as hemichorea. J Child Neurol 2007; 22 (01) 74-76
  • 8 Rana AQ, Rana AN, Adlul A, Khan A. Chorea and seizures in iatrogenic hypocalcaemia caused by accidental parathyroidectomy. Br J Hosp Med (Lond) 2012; 73 (08) 470-471 Erratum in: Br J Hosp Med (Lond). 2013 May;74(5):295. PMID: 22875527
  • 9 Metz GA. Stress as a modulator of motor system function and pathology. Rev Neurosci 2007; 18 (3-4) 209-222
  • 10 Clark GT, Ram S. Orofacial movement disorders. Oral Maxillofac Surg Clin North Am 2016; 28 (03) 397-407