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

Abstract

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. In the follow up of

last 1 year, patient is euglycemic with insulin
supplements and eucalcemic with calcium and
vitamin D supplements. Patient is referred for
mutational analysis for MEN1 and genetic
counseling. PHPT in young age may be the
initial manifestation of MEN 1. Multiglandular
involvement raises strong possibility of familial
transmission as in MEN 1. These patients
need proper evaluation and lifelong follow up.