Cargando…
Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a deficiency of the sterol 27-hydroxylase enzyme. This deficiency results in excess production and accumulation of cholestanol, which can lead to many clinical findings within the first three decades of life, inclu...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10498991/ https://www.ncbi.nlm.nih.gov/pubmed/37712087 http://dx.doi.org/10.3389/fneur.2023.1243379 |
_version_ | 1785105630256693248 |
---|---|
author | Rich, Alyson M. Karakoleva, Ema V. McInerney, James Farace, Elana De Jesus, Sol |
author_facet | Rich, Alyson M. Karakoleva, Ema V. McInerney, James Farace, Elana De Jesus, Sol |
author_sort | Rich, Alyson M. |
collection | PubMed |
description | Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a deficiency of the sterol 27-hydroxylase enzyme. This deficiency results in excess production and accumulation of cholestanol, which can lead to many clinical findings within the first three decades of life, including progressive neurological dysfunction. This is a treatable condition with improvements in neurological and non-neurological symptoms upon the early initiation of replacement therapy. This case report details a 42 years-old left-handed male in whom deep brain stimulation (DBS) intervention was pursued due to a limiting tremor related to delayed diagnosis and treatment of CTX at 22 years old. The application of DBS in treating tremors in a CTX patient has not previously been reported. For our patient, application of DBS led to meaningful and longstanding tremor control benefits that have required minimal changes to stimulation parameters post-DBS. These improvements to tremor were achieved without negative impact to his other CTX related comorbidities. |
format | Online Article Text |
id | pubmed-10498991 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104989912023-09-14 Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report Rich, Alyson M. Karakoleva, Ema V. McInerney, James Farace, Elana De Jesus, Sol Front Neurol Neurology Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a deficiency of the sterol 27-hydroxylase enzyme. This deficiency results in excess production and accumulation of cholestanol, which can lead to many clinical findings within the first three decades of life, including progressive neurological dysfunction. This is a treatable condition with improvements in neurological and non-neurological symptoms upon the early initiation of replacement therapy. This case report details a 42 years-old left-handed male in whom deep brain stimulation (DBS) intervention was pursued due to a limiting tremor related to delayed diagnosis and treatment of CTX at 22 years old. The application of DBS in treating tremors in a CTX patient has not previously been reported. For our patient, application of DBS led to meaningful and longstanding tremor control benefits that have required minimal changes to stimulation parameters post-DBS. These improvements to tremor were achieved without negative impact to his other CTX related comorbidities. Frontiers Media S.A. 2023-08-30 /pmc/articles/PMC10498991/ /pubmed/37712087 http://dx.doi.org/10.3389/fneur.2023.1243379 Text en Copyright © 2023 Rich, Karakoleva, McInerney, Farace and De Jesus. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Rich, Alyson M. Karakoleva, Ema V. McInerney, James Farace, Elana De Jesus, Sol Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title | Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title_full | Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title_fullStr | Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title_full_unstemmed | Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title_short | Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
title_sort | cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10498991/ https://www.ncbi.nlm.nih.gov/pubmed/37712087 http://dx.doi.org/10.3389/fneur.2023.1243379 |
work_keys_str_mv | AT richalysonm cerebrotendinousxanthomatosistremorsuccessfullycontrolledpostventralintermediatenucleusdeepbrainstimulationacasereport AT karakolevaemav cerebrotendinousxanthomatosistremorsuccessfullycontrolledpostventralintermediatenucleusdeepbrainstimulationacasereport AT mcinerneyjames cerebrotendinousxanthomatosistremorsuccessfullycontrolledpostventralintermediatenucleusdeepbrainstimulationacasereport AT faraceelana cerebrotendinousxanthomatosistremorsuccessfullycontrolledpostventralintermediatenucleusdeepbrainstimulationacasereport AT dejesussol cerebrotendinousxanthomatosistremorsuccessfullycontrolledpostventralintermediatenucleusdeepbrainstimulationacasereport |