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 patients 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 patients 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.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology