hrp0082p2-d3-390 | Fat Metabolism & Obesity (2) | ESPE2014

POMC Deficiency Mimicking Neurometabolic Disease

Ozen Samim , 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...