ea0035p815 | Paediatric endocrinology | ECE2014
Bodescu Ioana
, Constantinescu Aurora
, Alexianu Marilena
, Idriniceanu Jeanina
, Vasiliu Ioana
, Manolachie Adina
, Fadur Alina Daniela
, Leustean Letitia
, Mogos Voichita
, Vulpoi Carmen
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...