ESPE Abstracts (2015) 84 P-3-816

Von Hippel-Lindau Disease in an Adolescent with a Newly Described Alteration in the VHL Gene

Sevil Ari Yucaa, Emine Ayca Cimbeka, Yasar Sena, Fuat Bugrula, Dogan Koseb & Yavuz Koksala

aMedical Faculty, Selcuk University, Konya, Turkey; bMedical Faculty, Necmettin Erbakan University, Konya, Turkey

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.

Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which has not been reported to date.

Method: A 16-year-old boy presenting with headache and nausea to another medical centre was referred to our clinic when diagnostic workup revealed bilateral adrenal masses. The patient’s father also had had bilateral adrenal tumors, central nervous system tumor, renal cell carcinoma and had died after an operation. Family history revealed multiple tumors in the patient’s uncle, aunt and grandmother. A magnetic resonance imaging of the abdomen showed bilateral adrenal tumors that were also positive on metaiodobenzylguanidine scintigraphy. Raised urinary catecholamines confirmed a diagnosis of phaeochromocytoma.

Results: Bilateral adrenalectomy was performed. A heterozygous variant of the VHL gene, p. A149P (PCC>GCC), was verified.

Conclusion: VHL disease should be clinically suspected in any individual presenting with bilateral phaeochromocytoma and a positive family history. Molecular analysis of the VHL gene is useful in the management and follow-up.

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