Von-Hippel Lindau syndrome (VHL) is a familial disorder presenting in children with a range of different neoplasia. A paediatric screening protocol was published in 2000 and has now been applied to patients in our centre. Screening for VHL is multi-disciplinary involving clinical, biochemical, and radiological investigations.
Methods: Data was collected between 2000 and 2007 in 14 children on compliance with screening and identification of pathological lesions. Each component of the protocol was assessed.
Results: Fourteen patients, 29% (4/14) male and 71% (10/14) female were screened annually. Thirteen (93%) with a mean age of 5.9 yr (range 1.210.7 yr) had a family history of VHL. Eight had mutations of the VHL gene and 5 had a first degree relative with clinically diagnosed VHL. One patient, a 13.6 yr old girl without a family history was screened after diagnosis of an isolated retinal capillary haemangioma. From 2000 to 2007, 29% of the patients had completed all screening recommendations, 50% had missed all or part of screening for a 1 yr period, 14% for a 2 yr period and 1 patient for a 3 yr period.
The following VHL lesions were identified. Ophthalmological examination diagnosed a retinal capillary haemangioma in 1 patient aged 11.8 yr. Cranial MR scan diagnosed a right cerebellar haemangioblastoma in the same patient at 12.5 yr which required treatment by gamma knife surgery. Five asymptomatic patients (mean age 9.9 yr; range 6.513.7 yr) had elevated 24 h urinary catecholamine levels. In 1 of these, repeat urinary catecholamine levels were normal and another had normal adrenal MR imaging. In the remaining 3 out of 5 patients MR scanning confirmed right-sided adrenal tumours and all underwent unilateral laparoscopic adrenalectomies. One of these patients had elevated 24 h urinary catecholamine levels 2 yrs post-operatively and MR confirmed a left-sided adrenal tumour and adrenalectomy was performed. Histology in all cases confirmed phaeochromocytoma.
Conclusions: Compliance with the screening protocol was variable however presymptomatic VHL manifestations were successfully identified allowing early intervention before complications occurred.
05 - 07 Nov 2008
British Society for Paediatric Endocrinology and Diabetes