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Coronary artery blockage

Progeria

Definition

Progeria is a disease that produces rapid aging, beginning in childhood.

Alternative Names

Hutchinson-Gilford syndrome

Causes

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.

Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is not seen in siblings of affected children, although -- in very rare circumstances -- more than one child in a family can have the condition.

Symptoms

• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly)
• Open soft spot (fontanelle)
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

Exams and Tests

The signs include:

• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
• Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect mutations in lamin A that cause progeria.

Treatment

There is presently no treatment for progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Outlook (Prognosis)

Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.

Possible Complications

• Stroke
• Myocardial infarction

When to Contact a Medical Professional

Call for an appointment with your health care provider if you child does not appear to be growing or developing normally.

Prevention

There is no known prevention.

Review Date: 7/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.