ESPE Abstracts (2014) 82 P-D-2-3-390

POMC Deficiency Mimicking Neurometabolic Disease

Samim Ozena, Nurhan Ozcana, Sema Kalkan Ucarb, Damla Goksena & Sukran Darcana


aDepartment of Pediatric Endocrinology, School of Medicine, Ege Univercity, Izmir, Turkey; bDepartment of Pediatric Metabolism, School of Medicine, Ege Univercity, Izmir, Turkey


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 resonance spectroscopy was consulted due to rapid weight gain, obesity, and episodes of hypoglycemia at the time of infection. Birth weight: 3100 g, her parents are first degree cousins. She has gained weight since she was 5.5 months. She had been treated because of neonatal cholestasis and hypoglycemic seizures in the neonatal period and gastroenteritis when she was 2.5 years old. Physical examination; weight, height, BMI were: 26 kg (SDS: 5.6), 110 cm (SDS: 2.6), and 21.5 kg/m2 (SDS: 3.1) respectively. Her hair color was red. Serum electrolyte, glucose, insulin, lipid, fT4, and TSH levels were normal. Metabolic tests (aminoacids, carnitine profiles, lactate, ammonia levels, and urinary organic acids analysis) were normal. Morning ACTH levels were <10 pg/ml (n: 10–60), cortisol levels were 0.01 μg/dl (n: 7–29). Maximum serum ACTH level was 15 pg/ml during the CRH test. Bilateral hyperintense lesions in the basal ganglia were detected in cranial MRI and an increased lactate-lipid peak was revealed by Proton magnetic resonance spectroscopy. Early-onset severe obesity, red hair and adrenal failure due to ACTH deficiency is observed in POMC deficiency, and molecular analysis was performed. A homozygous mutation (c.64delA/pMet22TrpfsX49) in POMC gene in the patient and heterozygous mutation in her parents were found.

Conclusion: Severe motor mental retardation and cranial MRI pathology in patients with POMC deficiency haven’t 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.

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