A nursery in a hospital in Germany, 2011 (Photo: GettyImages)
A three-month-old baby girl was diagnosed at Rambam Hospital with progeria, a very rare and severe syndrome that causes aging at an accelerated rate. This is the first case of the syndrome diagnosed in Israel, which you may be familiar with from the movie Benjamin Button.
Progeria syndrome – or Hutchinson-Guilford Progeria syndrome (the doctors who first described it) – is a rare and fatal genetic disease characterized by the process of accelerated aging in early childhood. The meaning of the name progeria in Greek is premature old age.
Progeria syndrome is caused by a mutation in a gene called LMNA that is responsible for producing a protein called lamin, which produces the structural scaffolding that holds the nuclei of a body cell in a normal structure. Researchers studying the rare syndrome believe that the same defective protein makes the nucleus of many cells in the body unstable, leading to accelerated aging. This means a loss of cell renewal and repair of cell damage.
Born with a healthy look
They are born healthy and normal, and the first signs in children with progeria usually begin to appear around the age of 18-24 months. Signs of the syndrome include slowing down and stopping the growth process, loss of adipose tissue in the body and loss of hair, aging of the skin and the appearance of wrinkles. Some of the signs even include joint stiffness and a range of diseases that characterize old age, including atherosclerosis, heart disease and stroke.
Brad Pitt in Cancer Benjamin Button. Draw the story from progeria (Photo: Walla! editorial board, screenshot)
Most children with the syndrome have a typical appearance, which makes them, like other syndromes, similar to each other despite having different ethnic backgrounds. In most cases, children diagnosed with progeria die around age 14 from complications of cardiovascular disease, similar to the leading cause of death in adults.
To date, there is no medical solution that can stop or prevent the onset of the disease. The only treatment is treatments that target the complications of the disease rather than the underlying problem. It is important to note that there are a number of prognia-like syndromes, also called "adult progeria", in which symptoms do not begin until the late teens and with a life expectancy of 40-50 years.
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