Endocrine Abstracts

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q...

Prader-Willi is a complex genetic syndrome with characteristic phenotype, obesity, hyperphagia, and endocrine hypothalamic dysfunctions. We present particular features of a case with confirmed Prader Willi syndrome (PWS).Case report: EP, only child of a young non-consanguine couple, was born in 1994 at 34 weeks of amenorrhoea, with a low Apgar score (7) and a weight of 2200 g. She presented important hypotonia in the first 6 weeks of life, needing gavage...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In february 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...