Medical Insider – Dr. Ria P. Maslog
Von Hippel-Lindau Disease
This disease is a neurocutaneous condition characterized by a solitary or multiple cerebellar hemangioblastomas with retinal and spinal angiomas and cystic malformations of the pancreas, kidneys and epididymis.
Clinically, it is silent until adolescence or adulthood. It is only at this stage that either ocular or neurological dysfunction appear.
There maybe:
- cerebellar signs which may be progressive and associated with increased intracranial pressures
- glaucoma or retinal detachment may manifest first before the appearance of retinal tumors
- patients may have polycythemia because of the hemangioblastoma that produces erythropoietin
The diagnosis of this condition may be established through peripheral hemograms, CT scan and thorough investigation of the family.
The treatment is directed towards the alleviation of the increased intracranial pressure and intraocular pressure; and the surgical excision of the cerebellar tumor.