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FAVORABLE RESPONSE TO ACETAZOLAMIDE IN A CASE OF GLUT-1 DEFICIENCY
Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Cataratas I
Date: 2014-05-05 04:15 PM – 04:30 PM
Last modified: 2014-02-09
Abstract
Introduction
Glut 1deficiency syndrome (GLUT1-DS) results from mutations in the SLC2A1 gene. Recently, the clinical spectrum has been broadened to include developmental delay, epilepsy and/or movement disorders. The diagnosis can be confirmed by molecular analysis and ketogenic diet remains the therapy of choice. Acetazolamide has been reported as an alternative therapy for patients with movement disorders.
Case report
An 18 month-old, previously healthy boy, presented with paroxysmal events that included eye-movements, ataxia and weakness. He had monthly episodes, each lasting from minutes to one hour. There was no positive family history and his neurodevelopment was normal.
Results
Neurological examination revealed no abnormalities in between episodes. Biochemical and metabolic tests revealed normal results. Brain MRI and electroencephalogram were normal. The cerebrospinal fluid showed mild hypoglycorrachia (39 mg/dl), with a 0,49 CSF-to-blood glucose ratio. Molecular studies identified a missense heterozygote mutation C. 119G>A (p.R400H) in the SLC2A1 gene. Oral acetazolamide was started, resulting in immediate and complete disappearance of the attacks. He has currently been symptom free for 12 months.
Conclusion
Glut 1 deficiency syndrome should be suspected in the presence of paroxysmal movement disorders and ataxia, even in the absence of epilepsy. Milder phenotypes, especially those characterized by movement disorders can be associated with CSF-to-blood glucose ratios up to 0,4. Acetazolamide could be an alternative therapy for patients with mild forms of Glut 1 deficiency syndrome with movements disorders.
Glut 1deficiency syndrome (GLUT1-DS) results from mutations in the SLC2A1 gene. Recently, the clinical spectrum has been broadened to include developmental delay, epilepsy and/or movement disorders. The diagnosis can be confirmed by molecular analysis and ketogenic diet remains the therapy of choice. Acetazolamide has been reported as an alternative therapy for patients with movement disorders.
Case report
An 18 month-old, previously healthy boy, presented with paroxysmal events that included eye-movements, ataxia and weakness. He had monthly episodes, each lasting from minutes to one hour. There was no positive family history and his neurodevelopment was normal.
Results
Neurological examination revealed no abnormalities in between episodes. Biochemical and metabolic tests revealed normal results. Brain MRI and electroencephalogram were normal. The cerebrospinal fluid showed mild hypoglycorrachia (39 mg/dl), with a 0,49 CSF-to-blood glucose ratio. Molecular studies identified a missense heterozygote mutation C. 119G>A (p.R400H) in the SLC2A1 gene. Oral acetazolamide was started, resulting in immediate and complete disappearance of the attacks. He has currently been symptom free for 12 months.
Conclusion
Glut 1 deficiency syndrome should be suspected in the presence of paroxysmal movement disorders and ataxia, even in the absence of epilepsy. Milder phenotypes, especially those characterized by movement disorders can be associated with CSF-to-blood glucose ratios up to 0,4. Acetazolamide could be an alternative therapy for patients with mild forms of Glut 1 deficiency syndrome with movements disorders.
Keywords
glut 1 deficiency-paroxysmal events-movement disorder
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