Rare Hereditary Form of Insomnia Can Cause Death, Scientists Report

Scientists have identified a rare but hereditary form of insomnia that has worn out at least one victim and probably more.

Initially diagnosed as suffering from dementia, the 53-year-old Italian man became progressively unable to sleep as standard drug treatments proved useless. After nine months, he died from pneumonia, apparently because his immune system became weakened by a lack of sleep.

“This is the first time such a case has been identified,” said Dr. Pierluigi Gambetti of the Case Western Reserve University in Cleveland, who worked with researchers at the University of Bologna Medical School in Italy. They described the bizarre case in the current New England Journal of Medicine.

During an autopsy, researchers found a significant deterioration of cells in a part of the central brain known as the thalamus, which has long been suspected of being involved with sleep.

Gambetti speculated that cells in the thalamus of those suffering from chronic insomnia may be malfunctioning, while in the fatal form these cells die progressively for some unknown reason.

The man had two sisters whose deaths were blamed on dementia, but a subsequent examination of the brain of one sister found a similar deterioration of the thalamus, suggesting that they, too, may have died as a result of insomnia.

“These patients probably die essentially from exhaustion. They never sleep. It is like an engine that is racing all the time. At a certain point the metabolism simply cannot maintain,” Gambetti said.

He said the findings should not cause concern among those suffering from run-of-the-mill insomnia because the fatal form of the disease is distinctly progressive and probably very rare. Those with chronic insomnia may, however, be suffering from a similar but less serious version of the disease, he said.