DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1

Childs Nerv Syst. 2022 Sep;38(9):1821-1824. doi: 10.1007/s00381-022-05582-9. Epub 2022 Jun 20.

Abstract

Introduction: Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases.

Case description: We report on a 16-year-old girl with a variant in the GNAO1 gene (c.626G > T; p.(Arg209Leu)) who was admitted to the intensive care unit with medically refractory dystonic storm with secondary complications inducing rhabdomyolysis and acute colitis. Emergency pallidal DBS resulted in rapid improvement of dystonic storm and the subsidence of rhabdomyolysis and colitis. There were no further episodes of dystonic storm during follow-up of 2 years.

Conclusion: Pallidal DBS is a useful treatment option for GNAO1-related dystonic storm with secondary complications which can be performed as an emergency surgery.

Keywords: DYT-GNAO1; Deep brain stimulation; Dystonic storm; GNAO1 gene; Globus pallidus internus.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Colitis* / complications
  • Colitis* / surgery
  • Deep Brain Stimulation* / methods
  • Dystonic Disorders* / therapy
  • Female
  • GTP-Binding Protein alpha Subunits, Gi-Go / genetics
  • Globus Pallidus
  • Humans
  • Rhabdomyolysis* / complications
  • Treatment Outcome

Substances

  • GNAO1 protein, human
  • GTP-Binding Protein alpha Subunits, Gi-Go