Article Date: 5/1/2009

Von Hippel-Lindau Disease Presenting as Left-arm Numbness
PHOTO ESSAY

Von Hippel-Lindau Disease Presenting as Left-arm Numbness

RAVI S. J. SINGH, MD · INGRID U. SCOTT, MD, MPH
JAMES STRONG, CRA · DAVID QUILLEN, MD

A 44-year-old dentist noticed numbness in his left arm for a few weeks and a subsequent MRI of the brain and spine revealed a cystic lesion at C5 suspicious of hemangioblastoma. The patient's past medical history was significant for polycystic kidney disease diagnosed 9 years previously. His mother had been diagnosed with a "brain tumor" at 21 years of age, as well as polycystic kidney disease. The clinical findings, medical history, and family history were concerning for Von Hippel-Lindau disease and the patient was referred to ophthalmology for a dilated funduscopic examination. The patient reported he had received yearly eye examinations for the past several years with a local optometrist.

Ophthalmologic examination demonstrated a corrected visual acuity of 20/20 in each eye and the patient correctly identified 11/11 Ishihara color plates. Pupils were briskly reactive without any afferent defect. Slit-lamp examination of the anterior segment was unremarkable. Dilated funduscopic examination showed 3 midperipheral endophytic retinal hemangiomas in the right eye and 1 peripheral hemangioma in the left eye. Fluorescein angiography confirmed the presence of these retinal hemangiomas.

All 4 retinal hemangiomas were treated successfully with laser photocoagulation. The patient subsequently underwent surgery for removal of the cervical hemangioblastoma and was referred to urology for evaluation of renal status and monitoring for renal cell carcinoma. He was also referred for genetic counseling pertaining to his diagnosis of Von Hippel-Lindau disease.1,2 RP

Figure 1. Normal posterior pole of the right eye.

Figure 2. Midperipheral endophytic retinal hemangioma right eye.

Figure 3. Midperipheral endophytic retinal hemangiomas in the right eye.

Figure 4. Another view of midperipheral endophytic retinal hemangiomas in the right eye.

Figure 5. Normal posterior pole of the right eye.

Figure 6. Peripheral endophytic retinal hemangioma in the left eye.

What is Von Hippel-Lindau Disease?
Von Hippel-Lindau (VHL) disease is a genetic disorder that causes the appearance of cysts and hemangioblastomas, not only on the retina, but in parts of the brain and spinal cord as well. These are benign tumors comprised of stem cells that, in normal conditions, cause the creation of blood vessels. Eugen von Hippel (1867-1939), the German neurologist who studied with Theodore Leber, published the first paper on hemangioblastomas in the eye in 1904 in Graefes. Arvid Landau (1892-1958) was a Swedish pathologist who identified the link between these tumors in the cerebellum and in the retina.

Treatment for VHL depends on the size and location of the tumors involved. The National Institutes of Health suggests treating the tumors while they are still small enough not to cause permanent damage to the eye or greater overall physical harm, including brain damage. Depending on the location and size of the tumors, surgery or radiation is generally used.

While rare, because VHL is a genetically determined disease, caused by the passing along of an autosomal dominant trait on chromosome 3, there are some populations, particularly in remote regions, where the disease is more common. The McCoy family of the Appalachian regions of West Virginia and Kentucky — famous for their late 19th century feud with the Hatfield family — had the disease in their family. Televised reports in 2007 suggested the VHL may have played a role in the Hatfield-McCoy feud, as VHL has been linked to an increased adrenaline reaction in the body, resulting in otherwise inexplicable rage.

Andrew E. Mathis, PhD, Medical Editor


Figure 7. Red-free photograph of endophytic retinal hemangiomas in the right eye.

Figure 8. Another red-free photograph of endophytic retinal hemangiomas in the right eye.

Figure 9. Midphase fluorescein angiography showing retinal hemangiomas in the right eye.

Figure 10. Another midphase fluorescein angiography showing retinal hemangiomas in the right eye.

Ravi S. J. Singh, MD, is an ophthalmology resident at the Penn State Hershey Eye Center of Pennsylvania State University. Ingrid U. Scott, MD, MPH, is professor of ophthalmology and public health sciences at the Penn State College of Medicine in Hershey. James Strong, CRA, is an ophthalmic photographer at the Hershey Eye Center. David Quillen, MD, is George and Barbara Blankenship Professor and Chair of the Hershey Eye Center. None of the authors reports any financial interests in products mentioned here. Dr. Singh can be reached via e-mail at rsingh1@hmc.psu.edu.

REFERENCES

  1. Ridley M, Green J, Johnson G. Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. Can J Ophthalmol. 1986;21:276-283.
  2. Gass JDM. Retinal and optic disc capillary hemangiomas. In: Stereoscopic Atlas of Macular Diseases. St Louis, MO: Mosby; 1997:850-865.


Retinal Physician, Issue: May 2009