Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2008) 17 P36

BSPED2008 Poster Presentations (1) (56 abstracts)

Outcomes of screening protocol in children at risk of Von-Hippel Lindau syndrome

R Prasad , L Martin , M Savage , H Storr & L Johnston


Paediatric Endocrinology Unit, Barts and the Royal London School of Medicine and Dentistry, London, UK.


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 1.2–10.7 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 6.5–13.7 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.

Volume 17

36th meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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