Een bewegingsstoornis na inspanning en vasten bij kinderen

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.

Conflict of interest and financial support: none declared.