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

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...

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Autores principales: Chaib, Hind, Schoene-Bake, Jan-Christoph, Saryyeva, Assel, Jack, Thomas, Hartmann, Hans, Krauss, Joachim K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463340/
https://www.ncbi.nlm.nih.gov/pubmed/35725943
http://dx.doi.org/10.1007/s00381-022-05582-9
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author Chaib, Hind
Schoene-Bake, Jan-Christoph
Saryyeva, Assel
Jack, Thomas
Hartmann, Hans
Krauss, Joachim K.
author_facet Chaib, Hind
Schoene-Bake, Jan-Christoph
Saryyeva, Assel
Jack, Thomas
Hartmann, Hans
Krauss, Joachim K.
author_sort Chaib, Hind
collection PubMed
description 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.
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spelling pubmed-94633402022-09-11 DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1 Chaib, Hind Schoene-Bake, Jan-Christoph Saryyeva, Assel Jack, Thomas Hartmann, Hans Krauss, Joachim K. Childs Nerv Syst Case Report 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. Springer Berlin Heidelberg 2022-06-20 2022 /pmc/articles/PMC9463340/ /pubmed/35725943 http://dx.doi.org/10.1007/s00381-022-05582-9 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Chaib, Hind
Schoene-Bake, Jan-Christoph
Saryyeva, Assel
Jack, Thomas
Hartmann, Hans
Krauss, Joachim K.
DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title_full DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title_fullStr DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title_full_unstemmed DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title_short DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
title_sort dbs emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in dyt-gnao1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463340/
https://www.ncbi.nlm.nih.gov/pubmed/35725943
http://dx.doi.org/10.1007/s00381-022-05582-9
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