Exercise and fasting induced movement disorder in children: think of the GLUT1 deficiency syndrome
Van Kan, K.E.M.; Panis, B.
Nederlands Tijdschrift Voor Geneeskunde 162
2018
ISSN/ISBN: 1876-8784 PMID: 30040286 Document Number: 696173
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. 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. 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.