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Paroxysmal Nonepileptic Events in Glut1 Deficiency
Joerg Klepper1, Baerbel Leiendecker2, Christin Eltze3
1Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.
Movement Disorders Clinical Practice
|January 3, 2017
Summary
Paroxysmal movement disorders are a key feature of Glut1 deficiency syndrome in children. These events, triggered by exercise and low ketosis, link pediatric and adult manifestations.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Glut1 deficiency syndrome (Glut1DS) is a rare metabolic disorder affecting glucose transport into the brain.
- Movement disorders are a hallmark clinical manifestation of Glut1DS.
- Paroxysmal exercise-induced dystonia has been identified in adults with Glut1DS.
Observation:
- This case series investigated paroxysmal events in pediatric Glut1DS patients.
- Parent-recorded videos and questionnaires were utilized to document clinical presentations.
- Three children's videos depicted ataxic-dystonic, choreatiform, and dyskinetic-dystonic features during events.
Findings:
- Fifty-six questionnaires confirmed paroxysmal events in 73% of pediatric patients.
- These events increased with age and were triggered by low ketosis, sleep deprivation, and exercise.
- No correlation was found with sex, hypoglycorrhachia, SLC2A1 mutations, or ketogenic diet type.
Implications:
- Paroxysmal events are a significant clinical feature in pediatric Glut1DS.
- This finding establishes a clinical link between pediatric Glut1DS and adult-onset exercise-induced paroxysmal dyskinesias.
- Understanding these triggers can inform clinical management and patient counseling for Glut1DS.
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