Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Some children can be born with Von Hippel-Lindau disease which is a rare disorder involving the eyes and the brain. Children with this disorder have tiny growths of blood vessels inside their eyes called hemangioblastomas. By the time children reach their 40s or 50s, they will also have developed these growths (or tumors) in their brain or spinal cords. Less commonly, children with this disorder may also develop cancerous cells in their kidneys or, if they are boys, in their testicles. Some children may also develop cysts in their pancreas.

Who

Von Hippel-Lindau disease occurs in boys and girls equally. It is an inherited disease; if one parent has the disease, there is a 50% chance that it will pass on to the children in a pattern called autosomal dominant inheritance. Approximately 1 baby out of every 36,000 born will have this disease

Signs and Symptoms

Children with von Hippel-Lindau disease are most often diagnosed in young adulthood when they have trouble with their eyesight. The following symptoms may also be present, depending on where tumors develop: 1. Poor vision 2. Vomiting 3. Headaches 4. Problems with balance and walking

Possible Causes

The cause of von Hippel-Lindau disease is unknown at this time, but researchers have found that all children who have the disease have a defective gene located on their 3rd chromosome.

Diagnosis

Diagnosis of von Hippel-Lindau disease can be suggested by viewing the inside of the eyes with an ophthalmoscope. The final diagnosis, however, must be made by a blood test that looks for the defective gene.

Treatment

Treatment for von Hippel-Lindau disease involves removing the growths from the affected person’s eyes by either laser photocoagulation or cryotherapy. Because of the risk of developing cancerous cells in other parts of the body, imaging studies such as CT scans will be important to periodically look for growths; yearly ultrasounds will also be performed. Surgery to remove tumors before they become harmful will also likely be necessary. Certain tumors can be treated with focused high-dose irradiation. While there is currently no cure, research is ongoing.

Prognosis

With appropriate treatment and removal of growths, von Hippel-Lindau disease may not be life threatening. How well a child will do depends on the location and complications of the tumors. If they remain untreated, children may develop blindness or permanent brain damage. With early detection and treatment, outcome improves significantly. Death, however, may be possible if brain tumors or kidney cancer are present.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

eMedicine Website
A medically oriented review focused primarily on the eye manifestations. A medical background would be necessary to understand this site.

National Institute of Health Website
A brief summary by the NIH regarding the disease, but relatively little detail.

VHL Family Alliance Website
A family and patient oriented website dedicated to the disease.

Google Search for Von Hippel-Lindau Disease

References and Sources

1. Haslam RH (2000). Chapter 605.4 von Hippel-Lindau Disease. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson Textbook of Pediatrics, 16th ed, WB Saunders, p. 1838-39 2. Chatha RK. (2001). Von Hippel-Lindau Disease Masquerading as autosomal dominant Polycystic Kidney Disease, American Journal of Kidney Diseases, 37(4): 852-8. 3. Apt L, Miller KM (1996). Chapter 24 The Eyes. In: Rudolph AM, Hoffman JIE, Rudolph CD (eds) Rudolph’s Pediatrics, 20th ed., Appleton & Lange, p 2102.