Abstract：
INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thought. We describe a 3-year-old boy presenting with episodic ataxia. 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:Glucose transporter type 1 deficiency syndrome should be considered in the differential diagnosis in children with episodic ataxia, even if acetazolamide is effective.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka Hdoi
10.1016/j.pediatrneurol.2013.09.002subject
Has Abstractpub_date
2014-01-01 00:00:00pages
99-100issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(13)00559-6journal_volume
50pub_type
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