Neurofibromatosis: A Genetic Disorder of the Nervous System

Neurofibromatosis is a genetic disease that mostly affects the development of nerve cells. Also called NF for short, neurofibromatosis has two forms, NF1 (more common) and NF 2 (less common). As a story from a Dallas TV station notes, neurofibromatosis is more common than you might think, affecting one in 3,000 people.

The U.S. government's National Institute of Neurological Disorders and Stroke (NINDS) has a neurofibromatosis information page that explains the disease in plain English. According to this page, "These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities." NINDS also has a handy neurofibromatosis fact sheet. Symptoms of NF1 are often noticeable at birth or in infancy, usually in the appearance of the skin.

You can find information and support for neurofibromatosis at the  Web site of the Neurofibromatosis, Inc. NINDS also has an article on the proceedings of a workshop on neurofibromatosis in children, addressing basic and clinical research, animal models, treatment, and more.

Lorenzo Odone (of "Lorenzo's Oil" Fame) Dies at 30

Lorenzo Odone, whose struggle against a rare disease led his parents to be activists portrayed in the movie "Lorenzo's Oil," has died at age 30.

His parents fought to save him from the metabolic nerve disease adrenoleukodystrophy (ALD) despite the fact that they had no scientific background. Lorenzo Odone died at home on Friday at his home after coming down with pneumonia from getting food stuck in his throat.

You can learn more about ALD at Web sites from the National Institute of Neurological Disorders and Stroke, including a fact sheet, and more technical information from the National Center for BiotechnologyInformation. You can find advocacy information from the ALD Foundation.

Lorenzo Odone ended up living 20 years longer than doctors had predicted. He was diagnosed at age 6 with adrenoleukodystrophy, or ALD.

The movie "Lorenzo's Oil" starred Nick Nolte as Augusto Odone and Susan Sarandon as his wife Michaela.

Kawasaki Disease, a Children's Disorder of the Blood Vessels

Kawasaki disease (also called Kawasaki syndrome) is a childhood illness that involves inflammation of the blood vessels. It affects the mucus membranes, blood vessels (particularly the walls of the vessels), lymph nodes, and the heart, according to the Medline Plus medical encyclopedia.

Kawasaki disease is relatively rare and was first discovered in Japan, which is still the country where it occurs most frequently. In the United States, Kawasaki disease is seen most often in children of Japanese or Korean descent, though it can be found in children of all ethnic groups.

Medline notes that Kawasaki disease is "the most common cause of acquired heart disease in children." Inflammation of the coronary arteries can potentially lead to an aneurysm. The good news is that Kawasaki disease is treatable and the child can make a full recovery is the disorder is recognized and treated early.

The disorder is mainly seen in children under age five. The most common symptom of Kawasaki disease is a high fever (around 102 degrees Fahrenheit or more) that lasts at least five days. But to reach a diagnosis of Kawasaki disease, a number of other symptoms must be present.

You can find those signs and symptoms, as well as information on diagnosis, treatment, and complications, in articles at a number of helpful Web sites, including KidsHealth.org, MedicineNet.com, and the American Heart Association.

Krabbe Disease: Signs, Symptoms, Prognosis

The recent Powerball lottery win by a Minnesota couple has put the rare disorder Krabbe disease in the spotlight. The win for Paul and Sue Rosenau came five years to the day that a two-year-old granddaughter of theirs died of Krabbe disease, a disorder of the nervous system.

The couple says it has been working to make testing for Krabbe disease part of routine medical screening for newborns.

Krabbe disease, which is also called globoid cell leukodystrophy, is a degenerative disorder caused by a deficiency of an enzyme involved in the growth and maintenance of myelin, a substance that acts as a sheath or protective covering around some nerve cells in the body, similar to the way the plastic coating on electrical wire helps protect the wire and enable it to transmit electricity.

For a clear layman's explanation of Krabbe disease, check out the entry from the Medline Plus medical encyclopedia.

According to the U.S. government's Genetics Home Reference Web page on the disorder, Krabbe disease usually is seen by the age of one in babies, with symptoms including fever, irritability, muscle weakness, and difficulties in feeding. You can find more information at that Web site, as well as at another government Web page from the National Institute of Neurological Disorders and Stroke, which defines the illness, gives signs and symptoms, and describes treatment and prognosis.

The Web site eMedicine.com has a more scientific look at Krabbe disease, for readers with a more thorough understanding of medicine.

Tay-Sachs Disease: Symptoms, Treatment, Prognosis

Tay-Sachs disease is a fatal genetic neurological disorder that usually develops in children (and rarely in adults in their 20s or 30s). While babies can seem to develop normally at first, but then mental and physical abilities deteriorate over time. Eventually the child loses sight, hearing, and the ability to swallow; muscles atrophy; and paralysis results. There is no cure or treatment.

Tay-Sachs disease involves a problem with the storage of lipids (fats) in which harmful amounts of a particular fatty substance accumulates in tissues and nerve cells in the brain.

An article from the U.S. National Institutes of Health discusses what happens in Tay-Sachs disease, how it progresses, symptoms, treatment of symptoms, and prognosis.

Another article, from the National Human Genome Research Institute, offers a list of frequently asked questions about Tay-Sachs disease. And KidsHealth.org examines Tay-Sachs screening, who's at risk, prenatal diagnosis, and more.