MEDICAL SURFARI: ELEPHANT MAN'S REAL DISEASE

In 1993 I was an honorary house officer at the National Hospital for Neurological Disease and Stroke at Queen's Square in London. While I was there I visited the Royal London Hospital where the skeletal remains of Joseph Cary Merick have been kept. Merick is a relatively famous Victorian who is probably better known as "the elephant man."

Sir Frederick Treves, a medical doctor, "discovered" Merick in a carnival sideshow and he cared for him until his death in 1890. The record of this doctor/patient relationship has provoked some significant discussion about medical ethics, patients' rights and human dignity. For many years it was thought that Merick had suffered from a severe form of neurofibromatosis (NF). However, others theorized that he might have instead suffered from a much rarer disorder called proteus syndrome. In 1986, Michael Cohen at the University of Halifax in Nova Scotia, Canada proposed that Merick had proteus syndrome. The radiologists at the Royal London Hospital where Merick lived and the remains of his bones have now substantiated this theory.

By taking plain film X-rays and CT scans of Merick's skull they were able to reveal characteristic findings of this non-inherited disease caused by malfunctions in cell growth. So, Merick did not, in fact, have neurofibromatosis.

Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to form on nerves anywhere in the body. NF was first referred to in the medical literature by Dr. Friedrich von Recklinghausen and consequently has also come to be known as von Recklinghausen's disease. This disorder may affect any ethnic group or race and it affects both sexes equally. Even though this is one of the most common genetic disorders in the United States, not many people know of it.

NF is an autosomal dominant genetic condition meaning that it is not contagious and only 50 percent of those affected with NF have a prior family history. Also, if a parent does not have NF he or she cannot pass it on to children. NF is a nervous system disorder that can affect the body in various ways, depending upon the type of NF. There are two genetically distinct forms. The first (NF-1) primarily affects the peripheral nervous system, which may result in a multitude of small bumps or tumors in the small nerves within the skin. The second (NF-2) primarily affects the central nervous system and may not have any outward manifestations.

There are no cures for this condition at this time.

Peripheral nerve tumors resulting from NF-1 are generally not removed except in some unusual circumstances where they may cause some functional impairment. Brain and spinal tumors associated with NF-2 can often be removed successfully and these are always easier to remove when discovered early while the tumors are relatively smaller. Since this is a genetic disorder, each child of a parent with NF has a 50 percent chance of inheriting the gene and developing the condition. There is also a 50 percent chance that each child will not inherit the gene and will be completely free of NF.

World Wide Web Resources

National Neurofibromatosis Foundation

www.neurofibromatosis.org

This site provides information about the various types of neurofibomatosis, as well as current research and on-line resources for those interested in the disease.

Neurofibromatosis, Inc.

www.nfinc.org

This is an organization made up of independent state and regional chapters, providing support and services to neurofibromatosis individuals and families.