We present the case of a 28-year-old female diagnosed with multiple endocrine neoplasia type 2B (MEN 2B) when she was 17, consisting of medullary thyroid cancer, bilateral pheochromocytoma, lingual neuromas and marfanoid appearance. Bilateral adrenalectomy was performed as a first step, with complete thyroidectomy and bilateral ganglion dissection and resection of lingual neuromas later on. The...

INTRODUCTION Pheochromocytoma is a catecholamine-secreting tumor, which is seen rarely in children. These tumors predominantly secrete norepinephrine and epinephrine. They might be familial and associated with hereditary tumors such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type II. CASE PRESENTATION The child might present with a spectrum of clinical manifestation includ...

Mutations in the RET proto-oncogene have been implicated in the pathogenesis of several forms of medullary thyroid cancer (MTC). Multiple endocrine neoplasia type 2 (MEN-2) is an autosomal dominant syndrome caused by germline activating mutations of the RET proto-oncogene and has been categorized into three distinct clinical forms. MEN-2A is associated with MTC, bilateral pheochromocytoma, and ...

Various missense mutations in the VHL gene have been reported among patients with familial bilateral pheochromocytoma. However, the p.Arg82Leu mutation in the VHL gene described here among patients with familial bilateral pheochromocytoma, has never been reported previously in a germline configuration. Interestingly, long-term follow-up of these patients indicated that the mutation might have h...

Pheochromocytomas are rare tumours originating in chromaffin cells, representing 0.1–1% of all secondary hypertension cases.1 A case pheochromocytoma a 34 year old male presenting with unusual symptoms abdominal discomfort and vomiting is presented. He has been generally well the past but started feeling excessively tired for last 4 years had dyspepsia off on. On presentation his blood pressure...