Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a disorder with autosomal dominant inheritance pattern. It is characterized by the occurance of parathyroid, pituitary and pancreatic tumors. MEN1 presented by insulinoma as first presentation in children is very rare. On the other hand insulinoma affects 10% patients with MEN1 and occurs usually in young patients.
Case: Eleven years and eight months old girl was admitted, after a syncopal episode due to neuroglycopenia. For the previous 2 months she had experienced headaches, subsiding after a meal. Her fasting tolerance was limited to 2 hours. Her father was diagnosed with MEN1 manifested with insulinoma at the age of 20 and subsequently with hyperparathyroidism. Laboratory results revealed hyperinsulinemic hypoglycemia. Abdominal MRI scan showed pancreatic lesion 11×8.5×3.5 mm localized in uncinate process. 68Ga-DOTATATE PET/CT scan confirmed pancreatic nodule with high SSTR expression. No other lesions were found. Serum calcium level and PTH level were normal. She was referred for pancreatic surgery. Before surgery she was treated with diazoxide (4 mg/kg/d) with a good response. After pancreatic tumour enucleation, hypoglycemia resolved. The diagnosis of insulinoma was confirmed by histological examination. The patient is under continuous endocrine control. In 7 months of follow up she remained euglycemic and without symptoms of other pathologies connected with MEN1 syndrome.
Conclusions: Insulinoma is a rare initial manifestation of MEN1, especially in children. In presented case positive family history of MEN1 helped to establish diagnosis and begin proper treatment. Genetic examination in offsprings should be the mandatory element of medical care of adult patients with potentially life threatening inherited diseases.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology