Transient hypoglycorrhachia with paroxysmal abnormal eye movement in early infancy.
Abnormal eye movement
Early infancy
Glucose transporter 1
Hypoglycorrhachia
Journal
Brain & development
ISSN: 1872-7131
Titre abrégé: Brain Dev
Pays: Netherlands
ID NLM: 7909235
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
24
06
2020
revised:
30
10
2020
accepted:
08
11
2020
pubmed:
30
11
2020
medline:
5
10
2021
entrez:
29
11
2020
Statut:
ppublish
Résumé
Paroxysmal abnormal eye movement in early infancy is one of the initial symptoms of glucose transporter 1 deficiency syndrome (GLUT1DS). We describe four early infants with transient hypoglycorrhachia presenting with abnormal eye movements. Their symptoms disappeared after the introduction of a ketogenic diet (KD), and their development was normal. Since no variants in SLC2A1 were detected, the CSF-to-blood glucose ratios (C/B) were re-examined, and within normal range. None of the four patients displayed recurrent symptoms after withdrawal from the KD. Because long-term KD has potential adverse effects and could affect the quality of life of patients and their families, re-examination of CSF glucose during late infancy should be considered in the case of absence of the SLC2A1 pathogenic variant.
Identifiants
pubmed: 33248857
pii: S0387-7604(20)30317-X
doi: 10.1016/j.braindev.2020.11.006
pii:
doi:
Substances chimiques
Glucose
IY9XDZ35W2
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
482-485Informations de copyright
Copyright © 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.