Israel’s first case of progeria, a rare genetic syndrome causing rapid aging in children, was recently diagnosed at Rambam Health Care Campus (Rambam) in Haifa, Israel. Few individuals with progeria exceed 13 years of age. There is no known cure, but a new drug could extend the life of this patient – a three-month-old girl.
Dr. Hiba Za’arura, head of pediatric dermatology at Rambam Health Care Campus. Phototgraphy: Rambam HCC
At Rambam, a three-month-old baby girl was recently diagnosed with Progeria, an extremely rare disease that has only been identified in 140 patients worldwide. Many cases go unreported or undiagnosed, so the total number of progeria patients worldwide is estimated at 350. The condition may also be referred to as Hutchinson-Gilford progeria syndrome or Benjamin Button Disease. The latter name comes from the main character in the 1922 short story by F. Scott Fitzgerald – “The Curious Case of Benjamin Button.”
Dr. Hiba Za’arura, head of Pediatric Dermatology, at Rambam, who made the diagnosis explains, “A mutated lamin A (LMNA) gene causes progeria, and the patient’s diagnosis was confirmed through genetic testing.”
The baby girl seemed normal at birth, but her parents noticed that her skin texture was leathery. Za’arura explains, “Upon examination, we saw sclerotic-like changes in her chest and lungs. She had the typical facial characteristics common in cases of progeria, which include an enlarged head; a small jaw, chin, and mouth; a beak-like nose; and large eyes. The baby will be cared for at Rambam by a group of multidisciplinary physicians, including a cardiologist, a gastroenterologist, and an expert healthcare team.”
Individuals with progeria must also contend with other aging-related problems such as heart disease, hair loss, and bone and joint conditions. Over the years, multiple treatments have been attempted but an effective drug – Lonafarnib – only became available on the market in 2020. The drug is now available in Israel and Rambam will be treating this patient with it.
“No long-term study results are available. Treatment can only begin at one year of age, but it is believed that this drug can add two years to the life expectancy of a progeria patient. We are very hopeful,” concludes Dr. Za’arura.
Based on an article first published in the Times of Israel.