hrp0082p2-d3-390 | Fat Metabolism & Obesity (2) | ESPE2014
, Ozcan Nurhan
, Ucar Sema Kalkan
, Goksen Damla
, Darcan Sukran
Background: Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to ACTH deficiency.Case: 3.5 years old female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in magnetic resonance imaging, increased lactate-lipid peak in proton magnetic reso...