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    Child with abnormal eye lesions

     

    Complications from posterior fossa tumors largely depend on their location. Acute hydrocephalus from blockage of cerebrospinal fluid flow is an important complication that needs prompt recognition. Cranial neuropathies and other brainstem deficits are also common manifestations for tumors that compress or infiltrate these structures. Ataxia and gait instability are prominent with cerebellar lesions.

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    The presence of hemangioblastomas in the eye and central nervous system raise suspicion for von Hippel-Lindau (vHL) disease. The diagnosis is further supported by the autosomal dominant inheritance pattern. The patient underwent genetic testing for the vHL gene, which showed mutations consistent with the diagnosis and similar gene mutation as her mother.

    Discussion

    Von Hippel-Lindau disease is an autosomal dominant disorder caused by a mutation in the vHL tumor suppressor gene on chromosome 3, resulting in benign and malignant tumors. A vHL gene abnormality is present in 1 in 36,000 persons.2 Affected individuals may manifest at any age, but most commonly between 18 and 30 years.

    The disease was initially described by Eugen von Hippel and Arvid Lindau in the early 1900s.3 The vHL gene codes for a protein called pVHL, which plays a role in tumor suppression. With abnormal or absent pVHL, there can be uncontrolled angiogenesis and tumor growth in susceptible tissue leading to the hallmark tumors of the disease.4

    Clinical manifestations of vHL disease include hemangioblastomas of the brain and spine; retinal angiomas; clear cell renal cell carcinomas; pheochromocytomas; endolymphatic sac tumors of the middle ear; pancreatic tumors; and papillary cystadenomas of the epididymis and broad ligament (Table 22,5). Clinical diagnosis can be made if there is 1 major manifestation of vHL disease in patients with a positive family history, or at least 2 major manifestations including 1 hemangioblastoma in sporadic cases. Currently, genetic testing is readily available in cases with suspected vHL disease.

    NEXT: Treatment and management of the disease

    Lileth Mondok, MD
    Dr Mondok is assistant professor, Department of Neurology, Division of Child Neurology, Children’s Hospital of Wisconsin, Medical ...
    Sudeshna Mitra, MD
    Dr Mitra is a staff physician, Pediatric Neurology, Cleveland Clinic, Cleveland, Ohio.

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