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. CONCLUSION: Based on clinical observation in three cases, riboflavin may be an effective and safe prophylactic treatment for children with cyclic vomiting syndrome. WHAT IS KNOWN: CVS is one of the "childhood periodic syndromes" classified as a migraine subtype by the International Headache Society. Riboflavin is currently used as a prophylactic treatment in patients with migraine. WHAT IS NEW: Riboflavin may be an effective and safe prophylactic treatment for children with CVS. Increasing doses of riboflavin and long periods of prophylaxis may be needed in some children..

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 techniques.

The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.

The GRIA3 gene is located in the X chromosome and encodes for one of the subunits (iGluR3) of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), an excitatory synaptic transmission receptor present in most parts of the brain. iGluR3 dysfunction has been associated with both abnormal memory formation and learning. It has been observed in patients with different neurological and cognitive disorders, including epilepsy. Three different de novo missense variants of GRIA3 have recently been reported in patients with Developmental and Epileptic Encephalopathy (DEE). We report on a female pediatric patient with DEE whose clinical picture mimicked structural epilepsy. We give a detailed description of our patient's most important electro-clinical features. Genetic analysis revealed that the patient carried a de novo missense variant in GRIA3 (c.2359G>A; p.Glu787Lys). The p.Glu787Lys variant had previously been reported in a male pediatric patient. Additionally, we studied iGluR3 expression in the patient and control fibroblasts. We found significantly lower iGluR3 expression in the patient's fibroblasts than in controls and different responses to glutamate treatment. In summary, our report expands knowledge of GRIA3 variants affecting boys and girls, describes functional studies of these variants, and provides an extensive review of the literature concerning GRIA3 genetic variants.