Teenage Boy Becomes Youngest to Die of Fatal Insomnia
Prion diseases are a family of neurodegenerative disorders characterized by long incubation periods, spongiform changes associated with neuronal loss, and inflammatory response induction failure, and includes Kuru and Gerstmann-Straussler-Scheinker Syndrome, as well as sporadic fatal insomnia.
Sporadic fatal insomnia is one of the rarest conditions know to man, affecting less than 10 cases in history, and causes the sufferer to have a progressively worsening ability to sleep, alongside worsening movement, speech, and memory, which is caused by abnormally folded proteins.
The death of a 16 year old in North Carolina has been reported as the youngest case recorded in medical hisory. He died after 3 years of symptoms, and was not diagnosed until after his death. He first showed symptoms in 2009 as he developed double vision and slurred speech. This was shortly followed by trouble writing, balance problems, and memory issues. He was admitted to hospital with involuntary movement in his arms and legs, and was soon wheelchair-bound due to his lack of mobility. Chewing and swallowing became difficult over the next two years, and he died in February 2012 after being admitted with severe respiratory stress.
It is related to Fatal Familial Insomnia, an autosomal dominant inherited form of the condition which also includes slightly different clinical manifestations such as hallucinations, delirium, panic attacks, paranoia and confusion, and has only 100 reported cases with sufferers surviving, on average, only up to 18 months after first showing symptoms. There are 25 families recorded to carry this gene. Eventually, the patient suffers from a complete inability to sleep past NREM-sleep (light sleep) and usually after 6 months develops dementia and dies.
It is thought that the misdiagnosis of the teenage boy was as a result of him lacking this gene, therefore sporadic fatal insomnia was not considered due to its rarity.
There is no known treatment for either types of fatal insomnia. Sleeping medications, barbiturates, and gene therapy have shown no effectiveness in managing these types of insomnia, and conventional treatments for sleeping disorders has even shown to worsen the conditions.
A full report can be found in February 2nd Edition of Journal of Pediatrics.