[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.

[Scleredema "adultorum" (Buschke) (author's transl)].

In relation to a new case of scleredema "adultorum" (Buschke) observed by authors in a two year-old girl, they compare characteristics of this type of cutaneous induration with those of sclerodermia. Scleredema affects the neck region, face and upper thorax, and very rarely it reaches the hands, meanwhile in sclerodermia the hands and face, and some other possible cutaneous region and viscera are commonly affected. The former regresses in six months to two years, or rarely later; the second is progressive and permanent.