Endocrine Abstracts

JOINT1463

Introduction: Congenital hyperinsulinism is the most common cause of recurrent hypoglycemia in children <2 years of age.

Aim: To show two cases of brothers with consanguineous parents in order to spread the disease and its evolution and management

Case 1: Girl who showed at 24 hours of age febrile seizure, hypoglycemia (21 mg/dl), and subependymal hemorrhage. She required glucose intake (21mg/kg/day), anticonvulsant, IV calcium, vitamin D, phenylbutyrate, benzoate, arginine, lactulose, carnitine, glycosade (150ml/kg/day), dextrinomaltose, cornstarch and feeding by NGT. Two critical samples were carried out. Lactic acid (5.6), cholesterol (217), ammonium (287), CK (2689), GOT (377), GGT 342), insulin (40 and 48.57), acids fatty (5), were elevated, while acylcarnitine 6 (C6), C-peptide (7 and 7.76), calcium (8.8), and vitamin D were decreased. Ketone bodies were negatives. She was diagnosed with congenital hyperinsulinism, and PET was performed, finding a diffuse pattern with doubtful focality in the pancreatic tail. Normal genetic panel for hyperinsulinism and K-ATP channels. In expanded exome she was carrier of ABCC8, POMC and TNNI3 mutations. She started treatment with diazoxide without response. She was treated with octreotide (27mg/kg/day), sirolimus (3mg/m²/day) and hydrocortisone. She showed hypertriglyceridemia and swallowing disorders. Currently being treated with Lanreotide 60mg sc every 2 months. Diagnosed with dilated cardiomyopathy with EF 30% and thrombosis at 2 years, requiring EMO and heart transplant. After transplant, lanreotide was withdrawn due to hyperglycemia, and reintroduced a few months later.

Case 2: Male who at birth showed severe non-ketotic hypoglycemia that required glucose intake (>8mg/kg/minute). Critical sample compatible with hyperinsulinism (C peptide >0.6, glucose 25 mg/dl), treated with diazoxide, dextrinomaltose, and more glucose, with hypoglycemia persisting, so he started octreotide 60 mg/dose+glycosade and raw starch (cornstarch), controlling himself. Genetics detected SUR1 DEFICIENCY. At 1.5 years of age he was diagnosed with dilated cardiomyopathy. He developed severe left ventricular dysfunction and moderate/severe mitral insufficiency. After 2 years, the ejection fraction worsened and produced decompensated heart failure, requiring external ventricular assistance. He showed instability and continuous febrile processes that only improved after hydrocortisone. In brain MRI, marked diffuse cerebral atrophy and established infarcts. He progressively worsened, evolving to cardiorespiratory arrest and death

Conclusions: - In case of negative genetics and high suspicion, complete exome may be a diagnostic possibility. - In case of no response to diazoxide, the next therapeutic steps would be both oral and subcutaneous somatostatins, in that order. - Hypertriglyceridemia and swallowing disorders are reported side effects of somatostatins and sirolimus.