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A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is regarded as a representative symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is usually caused by aberrations of th...

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Autores principales: Yu, Miaomiao, Miao, Jing, Lv, Yudan, Wang, Xue, Zhang, Wuqiong, Shao, Na, Meng, Hongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876440/
https://www.ncbi.nlm.nih.gov/pubmed/33584489
http://dx.doi.org/10.3389/fneur.2020.549331
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author Yu, Miaomiao
Miao, Jing
Lv, Yudan
Wang, Xue
Zhang, Wuqiong
Shao, Na
Meng, Hongmei
author_facet Yu, Miaomiao
Miao, Jing
Lv, Yudan
Wang, Xue
Zhang, Wuqiong
Shao, Na
Meng, Hongmei
author_sort Yu, Miaomiao
collection PubMed
description Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is regarded as a representative symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is usually caused by aberrations of the MR1 and KCNMA1 genes, but it also appears in Glut1-DS. We herein document a patient with Glut1-DS who suffered first from paroxysmal exercise-induced dyskinesia and subsequently paroxysmal non-kinesigenic dyskinesia and experienced a recent worsening of symptoms accompanied with a low fever. The lumbar puncture result showed a decreased glucose concentration and increased white blood cell (WBC) count in cerebrospinal fluid (CSF). The exacerbated symptoms were initially suspected to be caused by intracranial infection due to a mild fever of <38.0°C, decreased CSF glucose, and increased CSF WBC count. However, the second lumbar puncture result indicated a decreased glucose concentration and normal WBC count in CSF with no anti-infective agents, and the patient's symptoms were not relieved apparently. The continuous low glucose concentration attracted our attention, and gene analysis was performed. According to the gene analysis result, the patient was diagnosed with Glut1-DS finally. This case indicates that the complex paroxysmal dyskinesia in Glut1-DS may be confusing and pose challenges for accurate diagnosis. Except intracranial infection, Glut1-DS should be considered as a differential diagnosis upon detection of a low CSF glucose concentration and dyskinesia. The case presented here may encourage clinicians to be mindful of this atypical manifestation of Glut1-DS in order to avoid misdiagnosis.
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spelling pubmed-78764402021-02-12 A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review Yu, Miaomiao Miao, Jing Lv, Yudan Wang, Xue Zhang, Wuqiong Shao, Na Meng, Hongmei Front Neurol Neurology Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is regarded as a representative symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is usually caused by aberrations of the MR1 and KCNMA1 genes, but it also appears in Glut1-DS. We herein document a patient with Glut1-DS who suffered first from paroxysmal exercise-induced dyskinesia and subsequently paroxysmal non-kinesigenic dyskinesia and experienced a recent worsening of symptoms accompanied with a low fever. The lumbar puncture result showed a decreased glucose concentration and increased white blood cell (WBC) count in cerebrospinal fluid (CSF). The exacerbated symptoms were initially suspected to be caused by intracranial infection due to a mild fever of <38.0°C, decreased CSF glucose, and increased CSF WBC count. However, the second lumbar puncture result indicated a decreased glucose concentration and normal WBC count in CSF with no anti-infective agents, and the patient's symptoms were not relieved apparently. The continuous low glucose concentration attracted our attention, and gene analysis was performed. According to the gene analysis result, the patient was diagnosed with Glut1-DS finally. This case indicates that the complex paroxysmal dyskinesia in Glut1-DS may be confusing and pose challenges for accurate diagnosis. Except intracranial infection, Glut1-DS should be considered as a differential diagnosis upon detection of a low CSF glucose concentration and dyskinesia. The case presented here may encourage clinicians to be mindful of this atypical manifestation of Glut1-DS in order to avoid misdiagnosis. Frontiers Media S.A. 2021-01-28 /pmc/articles/PMC7876440/ /pubmed/33584489 http://dx.doi.org/10.3389/fneur.2020.549331 Text en Copyright © 2021 Yu, Miao, Lv, Wang, Zhang, Shao and Meng. http://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
Yu, Miaomiao
Miao, Jing
Lv, Yudan
Wang, Xue
Zhang, Wuqiong
Shao, Na
Meng, Hongmei
A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title_full A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title_fullStr A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title_full_unstemmed A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title_short A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review
title_sort challenging diagnosis of atypical glut1-ds: a case report and literature review
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876440/
https://www.ncbi.nlm.nih.gov/pubmed/33584489
http://dx.doi.org/10.3389/fneur.2020.549331
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