AN INTERESTING AND A RARE CASE OF APPARENTLY SPORADIC MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

Multiple Endocrine Neoplasia syndrome 1 (MEN1) is an endocrine genetic autosomal dominant disease consisting of tumors in parathyroid, pancreas and pituitary glands. Here we report a 26 year old woman referred to us for persistent hypercalcemia following failed neck exploration for primary hyperparathyroidism (PHPT). She initially presented elsewhere with abdominal pain, dyspepsia and vomiting. Endosonography revealed multiple well defined hypoechoic lesions in the head of pancreas, and its biopsy was consistent with neuroendocrine tumor(NET). CECT abdomen showed multiple enhancing non enhancing lesions involving the head, body and tail of the pancreas. MEN 1 work up was done as part of the work up for multiple NE tumors in a young female. Workup revealed elevated calcium intact parathormone(iPTH). 99mTc SESTAMIBI scintigraphy showed intense radiotracer in the right inferior pole of thyroid. Right hemithyroidectomy was performed suspecting intrathyroidal parathyroid adenoma. Hypercalcemia persisted and the patient was referred to us.Further questioning revealed episodic tremulousness, sweating, increased hunger, headache, fainting and seizures for 4 years relieved by taking sweets. The 72-hour fasting test confirmed endogenous hyperinsulinism with low blood glucose(32 mgdl), high insulin (12.25mIUml) and C-peptide(1.34 ngml). Serum Prolactin, IGF-1 and Gastrin were normal. Pituitary MRI showed focal nonenhancing lesion 8.2mm 8.5mm hyperintense on T2 hypointense on T1 images in pituitary. Persistent PHPT was successfully managed by Subtotal parathyroidectomy (three and one half gland excision) with transcervical Thymectomy. Histology revealed parathyroid hyperplasia. Hypoglycemia was managed surgically by subtotal pancreatectomy. Histology was consistent with insulinoma