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Central nervous system involvement in Von Hippel-Lindau disease

Departments of Ophthalmology and Neurology (Dr. Filling-Katz), University of Louisville, Louisville, KY; the Department of Radiology (Drs. Choyke and Patronas), Warren G Magnusson Clinical Center; Surgical Neurology Branch (Drs. Oldfield and Morgan), National Institute of Neurological Diseases and Stroke; Unit on Neurogenetics (Dr. Charnas), Human Genetics Branch, National Institute of Child Health and Human Development; Laboratory of Immunobiology (Drs. Glenn and Zbar), Surgery Branch (Dr. Linehan), National Cancer Institute; Clinical Branch of Ophthalmic Genetics and Clinical Services (Dr. Gorin), National Eye Institute; National Institutes of Health, Bethesda, MD; and the Massachusetts General Hospital and Harvard University (Dr. Seizinger), Boston. MA.

Fifty individuals with Von Hippel-Lindau disease (VHL) were studied with gadolinium-enhanced magnetic resonance imaging (MRI) to determine the frequency and distribution of CNS lesions. The associated clinical features were also reviewed. Thirty-six (72%) of the 50 had 1 or more CNS tumors. The most frequently affected sites in the CNS excluding the retina were the cerebellum (52%), spinal cord (44%), and brainstem (18%). New regional predilections for the craniocervical junction and conus medullaris were demonstrated by this study. Forty-one percent of all VHL patients with CNS tumors were neurologically asymptomatic: cerebellar tumors (50%), spinal cord tumors (50%), and brainstem tumors (44%) were often without clinical signs or symptoms. Multiple lesions were common. The mean age of all VHL patients (34.5 years) was similar to the mean age of all CNS VHL patients (34.4 years), suggesting a lack of age association. CNS lesions commonly occurred in the 2nd decade of life. All patients at risk for VHL, should be evaluated using gadolinium-enhanced MRI after 10 years of age, although ophthalmic examination should be initiated within the 1st 2 years of life. Enhanced MRI is particularly useful in the detection of CNS tumors in patients with the VHL gene.

Address correspondence and reprint requests to Dr. Michele R. Filling-Katz, Room 3C102, Bldg. 10, NIAAA, 9000 Rockville Pike, Bethesda, MD 20892.

Received May 1, 1990. Accepted for publication in final form June 14, 1990.

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