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    Child with abnormal eye lesions


    Gene testing for vHL can be sent as a blood sample for single gene sequencing or deletion/duplication analysis. Also, vHL can be classified into subtypes based on the mutation present. These vHL Type II subtypes are associated with missense mutations and are at higher risk for pheochromocytoma.6

    Early diagnosis is key as patients face a lifetime of possible manifestations. Surveillance guidelines are in place so caregivers can be proactive in diagnosing these tumors at the earliest.

    Although this disorder manifests clinically in early adulthood, children also have been reported with symptoms/signs. The most common features occurring in the pediatric age group are retinal angiomas, pheochromocytomas, and central nervous system hemangioblastomas. Anticipatory guidance and surveillance by the general pediatrician and appropriate subspecialty referral for intervention are key to management.

    In early childhood (aged <5 years) of patients with known vHL disease, pediatricians should perform focused annual evaluation for any neurologic symptoms as well as vision and hearing problems. Because of the risk for pheochromocytoma, patients should have blood pressure monitoring in their visits. Formal ophthalmology evaluation on a yearly basis is recommended.

    Between ages 5 to 15 years, additional yearly evaluations should include tests for fractionated metanephrines in blood or a 24-hour urine test. Annual abdominal ultrasound (US) should be done starting at around age 8 years to screen for masses, and even earlier if clinically indicated. If biochemical abnormalities are found on screening tests, then abdominal MRI or metaiodobenzylguanidine (MIBG) scan is recommended. A complete hearing assessment by an audiologist should be done every 2 to 3 years or even more frequently if any hearing loss, tinnitus, or vertigo is found.

    Next: Girl's blistering rash spreads to eyes and face

    Beyond age 16 years, MRI of the brain and spinal cord is done every 2 years to evaluate for tumors in addition to other surveillance tests previously established.5

    Treatment and management

    Patients with vHL require a multidisciplinary approach. There is no targeted treatment toward the genetic mutation available as yet. Management is largely directed toward identifying the tumors early and performing surgical resection for symptomatic lesions. In the case of pheochromocytoma specifically, adequate alpha-adrenergic blockade and blood pressure control should be achieved prior to surgery. For symptomatic retinal angiomas, laser photocoagulation or cryotherapy are options for treatment.7 Patients and their families should undergo genetic screening and counseling for at-risk members.

    Patient outcome

    The patient is currently receiving surveillance monitoring as recommended. Her recent blood metanephrine screening test has been negative. Her headaches are easily managed with rescue ibuprofen. She underwent cryotherapy for retinal angioma in her right eye. She developed another retinal angioma in her left eye and was treated with laser ablation.


    1. Raybaud C, Ramaswamy V, Taylor MD, Laughlin S. Posterior fossa tumors in children: developmental anatomy and diagnostic imaging. Childs Nerv Syst. 2015;31(10):1661-1676.

    2. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet. 2003;36(9374):2059-2067.

    3. Richard S, Graff J, Lindau J, Resche F. Von Hippel-Lindau disease. Lancet. 2004;363(9416):1231-1234.

    4. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol. 2004;22(24):4991-5004.

    6. Zbar B, Kishida T, Chen F, et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996;8(4):348-357. 

    5. VHL Alliance. What You Need to Know About VHL. 5th ed. Available at: https://www.vhl.org/patients/vhl-handbook/. Published 1993. Updated 2015. Accessed January 17, 2018.

    7. Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. Ophthalmology. 2002;109(10):1799-1806. 

    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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