Abstract
Objectives
We conducted a nationwide survey of glucose transporter type-1 deficiency syndrome
(GLUT-1DS) in Japan in order to clarify its incidence as well as clinical and laboratory
information.
Subjects and methods
A questionnaire to survey the number of genetically and clinically confirmed cases
of GLUT-1DS was sent to 1018 board-certified pediatric neurologists, which resulted
in 57 patients being reported. We obtained the clinical and laboratory data of 33
patients through a secondary questionnaire.
Results
The age of the 33 patients (male: 15, female: 18) at the time of the study ranged
between 3 and 35 years (mean: 13.5 years). The age of these patients at the onset of initial neurological symptoms ranged
between the neonatal period and 48 months (mean: 9.4 months). GLUT-1DS was diagnosed at a mean age of 8.4 years (range: 1 year to 33 years). The initial symptom was convulsive seizures, which occurred in 15 cases, and
was followed by abnormal eye movements in 7 cases and apneic or cyanotic attacks in
4 cases. The latter two symptoms most frequently occurred early in infancy. Thirty-two
patients (97%) exhibited some type of epileptic seizure. Neurological findings revealed
that most patients had muscle hypotonia, cerebellar ataxia, dystonia, and spastic
paralysis. Mild to severe mental retardation was detected in all 33 cases. Furthermore,
paroxysmal episodes of ataxia, dystonia/dyskinesia, and motor paralysis were described
in approximately 1/3 of all patients. The factors that frequently aggravated these
events were hunger, exercise, fever, and fatigue, in that order. The mean CSF/blood
glucose ratio was 0.36 (0.28–0.48). Pathological mutations in the SLC2A1 gene were identified in 28 out of 32 cases (87.5%).
Conclusion
The results described herein provided an insight into the early diagnosis of GLUT1-DS,
including unexplained paroxysmal abnormal eye movements, apneic/cyanotic attacks,
and convulsive seizures in infancy, as well as uncommon paroxysmal events (ataxia,
atonia, and motor paralysis) in childhood.
Keywords
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Article info
Publication history
Published online: December 05, 2014
Accepted:
November 20,
2014
Received in revised form:
October 20,
2014
Received:
September 6,
2014
Identification
Copyright
© 2014 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
