[Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain].

Introduction: The Practices in Emergency and Rescue medication For Epilepsy managed with Community administered Therapy (PERFECT™) Initiative was set up in 2011 to gain a better understanding of how prolonged convulsive seizures are managed, and rescue medication is administered, in out-of-hospital settings across Europe. This paper explores the initial research findings for Spain.

Material And Methods: A review was made of existing clinical guidelines, guidance to schools, and relevant policy and legal frameworks, as well as a survey of 20 healthcare professionals who treat children with prolonged convulsive seizures in Spain.

[Epidemiology of progressive intellectual and neurological deterioration in childhood. A multicentre study in the Community of Valencia].

Background: Progressive intellectual and neurological deterioration (PIND) in childhood has an incidence of 0.5 per thousand live births. Its impact on morbimortality is important.

[Methylphenidate and sleep: Results of a multicentre study on a population of children with attention deficit hyperactivity disorder].

Introduction: The attention-deficit/hyperactivity disorder (ADHD) is the most common neuro-behavioural disorder in children and adolescents. Methylphenidate (MPH) is the drug most often used in the treatment of this disorder. It is important to know the effects methylphenidate can have on sleep due to the repercussions that insufficient sleep can have on the behaviour and cognitive function of children and adolescents.

[Contiguous gene deletion syndrome in Xp21: the association between glycerol kinase deficiency, congenital suprarenal hypoplasia and Duchenne's muscular dystrophy].

Introduction: Complex glycerol kinase (GK) deficiency is a contiguous deletion of genes in Xp21 with loss of the locus for GK, for congenital adrenal hypoplasia (AHC) and/or for Duchenne's muscular dystrophy (DMD). We report the case of a 7-year-old patient with this rare disease.

Case Report: Our patient was a full-term male, with normal gestation and delivery, and no relevant family history.

[Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].

Introduction: Myoadenylate deaminase deficiency (MAD) constitutes the most common genetically determined enzymatic defect of the skeletal muscle (2% of the population), however, it causes clinical symptoms such us exercise-related muscle cramps and pain in quite a lower number of patients, being exceptional in children.

Case Report: A 7 year old boy is referred with intense myalgias after physical exertion associating increased creatin kinase level 3,273 UI/L (normal 24-195) which goes down in rest period to increase again with myalgias during exercise. The ischemic forearm exercise test shows a flat ammonia curve with a normal lactate rise in relation to control.