Riboflavine dans le syndrome des vomissements cycliques

Le syndrome de vomissements cycliques est l'un des syndromes épisodiques de l'enfance. Il est considéré comme une variante de la migraine, et est potentiellement lié à une anomalie dans le métabolisme mitochondrial. La riboflavine (vitamine B2) est un précurseur des cofacteurs de nombreuses enzymes impliquées dans le transport des électrons de la chaine respiratoire mitochondriale. Elle est actuellement utilisée dans le traitement prophylactique de la migraine chez les adultes et les enfants. Son utilisation dans le syndrome des vomissements cycliques n'a pas été étudiée. Par ce travail nous décrivons l'efficacité et la tolérance du traitement prophylactique par riboflavine chez trois patients pédiatriques remplissant les critères diagnostiques du syndrome des vomissements cycliques. Les trois patients ont été traités par une monothérapie de riboflavine pendant au moins 12 mois à doses croissantes. Nos observations montrent que la riboflavine pourrait représenter un traitement prophylactique sûr et efficace chez les enfants présentant un syndrome des vomissements cycliques

Clinical Variability of GLUT1DS

Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11)

Riboflavin in cyclic vomiting syndrome: efficacy in three children

Cyclic vomiting syndrome is an episodic disorder considered to be a migraine variant. Riboflavin is efficient in the prophylactic treatment of migraines in adults. We describe the effectiveness and tolerance of riboflavin treatment in three children with cyclic vomiting syndrome. All of them fulfilled the diagnosis criteria for cyclic vomiting syndrome. They received prophylactic monotherapy with riboflavin for at least 12 months. Excellent response and tolerability was observed

Airway compression management in late-presenting absent pulmonary valve syndrome

Introduction: Patients with absent pulmonary valve syndrome often present early with airway compression from aneurysmal pulmonary arteries. This study reviews our experience in managing absent pulmonary valve syndrome in later presenting children, and techniques used for managing airway compression. Methods: This study is a retrospective chart review of all patients who underwent repair of absent pulmonary valve syndrome from 2000 to 2012 at our institution. The primary endpoints were post-operative bronchoscopic and clinical evidence of persistent airway compression and need for reinterventions on the pulmonary arteries. Results: A total of 19 patients were included during the study period. The mean age at repair was 4.1±3.0 years (range 10 months-11 years). In all, seven patients had pre-operative bronchoscopic evidence of airway compression, which was managed by pulmonary artery reduction plasty in four patients and Lecompte manoeuvre in three patients. There were no peri-operative deaths. In patients with pulmonary artery plasty, two had no post-operative airway compression, one patient had improved compression, and one patient had unchanged compression. In patients managed with a Lecompte manoeuvre, two patients had no or trivial airway compression and one had improved compression. There were six late reinterventions or reoperations on the pulmonary arteries - two out of four in the pulmonary artery plasty group and one out of three in the Lecompte group. Conclusions: Most late-presenting patients with absent pulmonary valve syndrome do not have airway compression. Either pulmonary artery reduction plasty or the Lecompte manoeuvre can relieve proximal airway compression, without a significantly different risk of pulmonary artery reintervention between technique

Airway compression management in late-presenting absent pulmonary valve syndrome

Patients with absent pulmonary valve syndrome often present early with airway compression from aneurysmal pulmonary arteries. This study reviews our experience in managing absent pulmonary valve syndrome in later presenting children, and techniques used for managing airway compression