Abstract | INTRODUCTION: CASE REPORT: Our patient exhibited periodic abnormal eye movements, including opsoclonus, since he was 4 months of age. At 2 years of age, he experienced acute cerebellar ataxia after a vaccination. Since then, he has had periodic attacks of ataxic gait, repeated vomiting, and abnormal eye movement. He was diagnosed as having episodic ataxia type 2 because the administration of acetazolamide seemed effective. By 3 years and 10 months of age, he exhibited mild mental retardation and mild trunk ataxia. The attacks were more likely to occur when he was hungry. Molecular analysis revealed that the SLC2A1 gene had a de novo mutation of heterozygous seven nucleotide insertion within exon 7, resulting in a frameshift. He has recently begun a modified Atkins diet; the frequency of attacks has been reduced, and his psychomotor and language skills have begun to develop. DISCUSSION:
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Authors | Akiko Ohshiro-Sasaki, Hiroko Shimbo, Kyoko Takano, Takahito Wada, Hitoshi Osaka |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 50
Issue 1
Pg. 99-100
(Jan 2014)
ISSN: 1873-5150 [Electronic] United States |
PMID | 24200040
(Publication Type: Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- Glucose Transporter Type 1
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Topics |
- Brain Diseases, Metabolic
(complications)
- Cerebellar Ataxia
(complications)
- Child, Preschool
- Glucose Transporter Type 1
(deficiency, genetics)
- Humans
- Male
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