title: Von Hippel Lindau disease: keep it in the family.
abstract: We describe a case of von Hippel-Lindau disease (VHL) through three generations of the same family. First presentation was a young female with a 6-week history of headaches behind the eyes. On examination she was found to have bilateral retinal capillary haemangiomas (RCH). Preliminary diagnosis of VHL was suspected and further investigations confirmed the initial diagnosis. The patient was found to have pancreatic and kidney lesions and her mother had a cerebellar haemangioblastoma. Following genetic testing, the VHL gene appeared in the 9-year-old boy. On recent presymptomatic ophthalmic screening, the child was found to have RCH. Both patient and child's RCHs were successfully managed with a variety of treatments.
authors.affiliation: University Hospital Ayr, NHS Ayrshie and Arran, Ayr, UK. drmok@hotmail.co.uk
authors.forename: Michael Adly
authors.initials: MA
authors.lastname: Mikhail
authors.forename: Jia
authors.initials: J
authors.lastname: Ng
authors.forename: Joseph
authors.initials: J
authors.lastname: Mathew
authors.forename: Zachariah
authors.initials: Z
authors.lastname: Koshy
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005820:Genetic Testing; D018324:Hemangioma, Capillary / Q000150:complications / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008297:Male; D019572:Retinal Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*