Nederlands tijdschrift voor geneeskunde · 2018
[Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome].
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van Kan Kim E M, Panis Bianca
Аннотация
BACKGROUND: Glucose transporter type 1 (GLUT1) enables glucose to pass through the blood-brain barrier. A hereditary deficiency of this protein may lead to clinical symptoms when blood glucose levels are decreasing.
CASE DESCRIPTION: A 7-year-old girl with therapy-resistant childhood absence epilepsy presented with an exercise and fasting induced dystonic and atactic movement pattern. The movement pattern disappears postprandial. Based on a reduced glucose in the liquor, and also a reduced liquor glucose/serum glucose ratio, the diagnosis of GLUT1 deficiency syndrome was considered. Through genetic diagnostics a mutation of the SLC2A1 gene was identified, thereby confirming the initial diagnosis. The patient was referred to a tertiary centre for advice on following a ketogenic diet. After initiation of this treatment she no longer experienced absence epilepsy or paroxysmal dyskinesia episodes.
CONCLUSION: GLUT1 deficiency syndrome is a relatively underdiagnosed disease. The recommended therapy is adherence to a ketogenic diet. With this diet the symptoms are treated, yet at the same time the further development of the brain is stimulated.
CASE DESCRIPTION: A 7-year-old girl with therapy-resistant childhood absence epilepsy presented with an exercise and fasting induced dystonic and atactic movement pattern. The movement pattern disappears postprandial. Based on a reduced glucose in the liquor, and also a reduced liquor glucose/serum glucose ratio, the diagnosis of GLUT1 deficiency syndrome was considered. Through genetic diagnostics a mutation of the SLC2A1 gene was identified, thereby confirming the initial diagnosis. The patient was referred to a tertiary centre for advice on following a ketogenic diet. After initiation of this treatment she no longer experienced absence epilepsy or paroxysmal dyskinesia episodes.
CONCLUSION: GLUT1 deficiency syndrome is a relatively underdiagnosed disease. The recommended therapy is adherence to a ketogenic diet. With this diet the symptoms are treated, yet at the same time the further development of the brain is stimulated.