[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.