Syndrome of the week

Progeria

Progeria is a condition that resembles premature aging. The term usually refers specifically to Hutchinson-Gilford Progeria syndrome, an extremely rare condition where symptoms resembling some aspects of aging are manifested at an early age, and few affected children live past age 13. About 1 in 8 million babies are born with this condition. It is a genetic condition, but occurs sporadically and is usually not inherited.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging.

The earliest symptoms include failure to thrive (FTT) and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are characteristic of progeria. The people diagnosed with this disease usually have small, fragile bodies like those of elderly people.
Later the condition causes wrinkled skin, atherosclerosis and cardiovascular problems.

No treatments have been proven effective. Most treatment focuses on reducing complications such as cardiovascular disease, such as heart bypass surgery or low-dose aspirin. Children may also benefit from a high-calorie diet.
Growth hormone treatment has been attempted.
A type of anti-cancer drug, the farnesyltransferase inhibitors (FTIs), have been proposed, but their use has been mostly limited to animal models. A phase II clinical trial using the FTI Lonafarnib began in May 2007.

There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attacks or strokes.
Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop "wear and tear" conditions commonly associated with aging, like cataracts and osteoarthritis.

Currently, there are between 35 and 45 known cases in the world. Approximately 100 cases have been formally identified in medical history.

The new Brad Pitt movie;"The Curious Case of Benjamin Burton" (released Christmas day,2008) is based on Progeria, but takes extreme liberty to minimize severity of symptoms and paints an unrealistically optimistic picture of the documented prognosis.

OMC