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Year : 2011  |  Volume : 15  |  Issue : 8  |  Page : 406-408

Neurofibromatosis 1 with pheochromocytoma

1 Department of Endocrinology, Command Hospital, Lucknow, Uttar Pradesh, India
2 Department of Endocrinology, PD Hinduja National Hospital and Medical Research Centre, Mahim, Mumbai, India
3 Department of Urology, Command Hospital, Lucknow, Uttar Pradesh, India

Correspondence Address:
K. V. S Hari Kumar
Department of Endocrinology, Command Hospital, Lucknow - 226 002, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2230-8210.86988

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Von Hippel-Lindau (VHL) disease includes a wide spectrum of highly vascular tumors like pheochromocytoma, cysts and adenomas of the pancreas and kidney, endolymphatic sac and renal cell carcinoma. Molecular analysis of the VHL gene is vital in these patients and their kindred. Neuroendocrine pancreatic tumors are rare and are known for their malignant and metastatic potential. We discuss an interesting case of a young lady who had a strong family history of central nervous system and spinal tumors. Our patient presented with recently detected severe hypertension. She was found to have elevated urinary normetanephrine levels; radiological imaging revealed bilateral pheochromocytomas with a pancreatic lesion. On genetic analysis, a variation, c.IVS 2 + 3 A > G, was found in the intronic region following exon 2 of the VHL gene. This variant appears novel. This patient underwent bilateral adrenalectomy (right total and left cortical sparing), distal pancreatectomy and splenectomy. Histology was diagnostic for pheochromocytoma with a neuroendocrine tumor of the pancreas. The postoperative period was uneventful. She was advised genetic screening of all her first-degree relatives.

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