title: Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency.
abstract: OBJECTIVE
  Loss of function mutations of proopiomelanocortin (POMC) gene results in adrenal insufficiency, early-onset hyperphagic obesity, and red hair. However, neuromotor retardation with POMC deficiency has not been reported before.
  
  
  METHODS
  We report a female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in cranial magnetic resonance imaging, increased lactate-lipid peak in proton magnetic resonance spectroscopy. She was consulted due to rapid weight gain, obesity, and episodes of hypoglycemia and homozygous mutation (c.64delA) in POMC gene was found.
  
  
  CONCLUSIONS
  Severe motor mental retardation and cranial magnetic resonance imagingpathology in patients with POMC deficiency have not been reported previously in the literature. Bilateral hyperintense lesions in the basal ganglia and the increased lactate-lipid peak was thought to be the result of recurrent hypoglycemia.
authors.forename: Samim
authors.initials: S
authors.lastname: Özen
authors.forename: Nurhan
authors.initials: N
authors.lastname: Özcan
authors.forename: Sema Kalkan
authors.initials: SK
authors.lastname: Uçar
authors.forename: Damla
authors.initials: D
authors.lastname: Gökşen
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Darcan
mesh_terms: D000309:Adrenal Insufficiency / Q000150:complications / Q000473:pathology*; D001479:Basal Ganglia / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009765:Obesity / Q000150:complications / Q000473:pathology*; D011333:Pro-Opiomelanocortin / Q000172:deficiency*; D011597:Psychomotor Performance; D015430:Weight Gain
chemical_list: D011333:Pro-Opiomelanocortin