Open AccessRole of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease
Author(s) -
Ranil Johann Boaz,
Pooja Ramakant,
Andrew Ebenazer,
Rekha Pai,
Simon Rajaratnam,
Deepak Thomas Abraham,
Mazhuvanchary Jacob Paul
Publication year - 2011
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.86987
Subject(s) - pheochromocytoma , neurofibromatosis , medicine , penetrance , von hippel–lindau disease , disease , adrenalectomy , pathology , genetics , phenotype , biology , gene
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.