We present a family with Von Hippel - Lindau disease (VHL). First two brothers were diagnosed with pheochromocytoma, one of them consecutively in both adrenals in a 16-years interval. Then the daughter of one of these two men was diagnosed with pheochromocytoma in both adrenals and one extraadrenal tumour. Later the daughter of the second man was successfully operated for unilateral pheochromocytoma. No neurological signs were present, no other tumours found, and the ocular investigation was normal. Genetic investigation did not prove suspicion on succinatedehydrogenase mutation, but Von Hippel-Linau disease was proved instead.
The NMR image showed cerebellar and spinal cord haemangioblastoma in both brothers and one of the young ladies. These lesions were asymptomatic until pregnancy. In the13th week of pregnancy the cerebellar haemangioblastoma grew in this 33 years old lady and caused obstruction of the third ventricle and hydrocephalus. The tumour was successfully excised via suboccipital craniectomy with favourable outcome for both the mother and the foetus.
Solid vascular tumour of the pancreatic head compatible with insular tumour, without any evidence of hormonal production was recently diagnosed in the younger of the two ladies (28 years old) and surgical enucleation is indicated.
We conclude that this family suffers from VHL type A, with low risk of renal cancer. The hemangiomas were asymptomatic for many years and were diagnosed only after the genetic diagnosis has been determined. Interesting is the sudden growth of cerebellar hemangiona during pregnancy.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology