Document Type
Case Report
Abstract
Von hippellindau(VHL) disease being a rare genetic disorder, presents with broad spectrum of clinical manifestation and multiorgan neoplasms. The diagnostic criteria for VHL disease include (i) one central nervous system haemangioblastoma and visceral manifestation , (ii) more than one central nervous system haemangioblastomas and (iii) known family history of VHL disease and any of the visceral manifestation. We report a case of 35 years-female patient who presented with recurrent cerebellar and spinal haemangioblastomas with new onset of retinal angioma,hepatichaemangioma and pancreatic cyst, with previous history of surgical resection of cerebellar and spinal cord lesions. This report highlights the importance of imaging in localizing multiple lesions in CNS and orbits, as these patients are difficult for surgical treatment, thus require gamma knife therapy (stereotactic radiosurgical ablation) and laser photocoagulation respectively.
Recommended Citation
Sattar, Javerya and Khan, Ateeq Ahmed
(2018)
"Recurrent cns haemangioblastomas with new onset of retinal angiomas in a female patient diagnosed as von hippel lindau syndrome,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 13:
Iss.
2, Article 4.
Available at:
https://ecommons.aku.edu/pjns/vol13/iss2/4
