Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

Abstract

Neurofibromatosis type 1 is the most common phakomatoses and is inherited in autosomal dominant fashion with complete penetrance. Secondary hypertension is common in these patients due to various causes including adrenal tumors. Pheochromocytoma is a rare catecholamine producing tumor seen in 0.5% to 5% of patients with neurofibromatosis. The combination of pheochromocytoma with neurofibromatosis is rarely reported in the literature. We recently encountered an elderly lady with this combination who successfully underwent adrenalectomy. We report the case for the uncommon occurrence and to highlight the relevant literature review about pheochromocytoma in neurofibromatosis.

Cafe-au-lait spots with resistant hypertension are an indicator of pheochromocytoma: a rare case report

“…However, this surgical treatment remains controversial due to the need for lifelong corticosteroid therapy and the risk of Addisonian crises associated with bilateral total adrenalectomy 21 . In fact, up to 23% of patients undergoing bilateral open adrenalectomy for bilateral pheochromocytoma may face the challenge of lifelong corticosteroid dependency, heightening the concern surrounding this approach 22 . In our case, the evolution was favorable under treatment replacement by hydrocortisone; however, the patient requires close and long-term monitoring to avoid these complications.…”