Brain scanĭoctors may subject the patient to a brain scan to image the structure and functioning of the brain to determine abnormalities or damage. The sleep study is critical in people with sporadic fatal insomnia, as they might not realize their sleep is affected. They will record data about your brain activity and heart rate during sleep at the sleep center and observe for a decline in sleep spindles and K-complexes on the polysomnogram. Sleep study (Polysomnography)ĭoctors may request you to be the subject of a sleep study if you present with insomnia or sleep disturbances. They should also consider conducting further tests to rule out the possibility of the symptoms resulting from degenerative conditions such as Alzheimer's.Ī doctor may carry out the following tests to determine whether one has the condition. A doctor may also collect blood tests to rule out other health issues, such as thyroid problems, as sporadic fatal insomnia is a diagnosis of exclusion. Psychiatric symptoms, such as depression, anxiety, and changes in mood and personalityĪ person with this condition may also show weight loss, increased heart rate, profuse sweating, and voice changes. To be diagnosed with the condition, one must first exhibit sleep disturbances on a sleep study and present with at least two of the following symptoms of brain degeneration.
The same tests carried out in diagnosing fatal familial insomnia are used to determine the presence of sporadic fatal insomnia. Original article on Live Science.How is sporadic fatal insomnia diagnosed? 3 in the journal Pediatrics.įollow Rachael Rettner Follow Live Science, Facebook & Google+. If a doctor is "faced with a patient with very a unusual neurological disease that cannot be explained by any other cause, then they should start considering the possibility of prion diseases, even if the patient is very young," Belay said. "They may be struggling with sleep, and they may not be able to communicate that," he said. Sometimes insomnia is missed because a patient's condition is so advanced that they aren't able to tell others about their sleep problems, Belay said. Belay noted that sometimes a sleep study is needed to diagnose insomnia, but in the boy's case, this was not preformed. If the boy had insomnia, it was not picked up by his doctors or his parents. Because the boy did not have the genetic mutation characteristic of people with fatal familial insomnia, he was said to have sporadic fatal insomnia. Instead, his brain looked similar to those of people with fatal familial insomnia, an inherited prion disease in which patients often experience worsening insomnia.
But the lesions in the boy's brain were not characteristic of this condition. One type of prion disease is Creutzfeldt-Jakob Disease, a condition that is often sporadic.
There is no treatment or cure for prion diseases. "This is the youngest patient, that we are aware of," to have a sporadic prion disease, he said. "In the United States, prion disease in is extremely extremely unusual," Belay said. However in some cases, as with this teen boy, there is no "trigger," and these are known as sporadic cases, said Belay said. There are two known causes of prions forming in the brain - a person's genes, or factors in the environment. Prions are proteins normally found in the brain that form brain lesions when they start to fold abnormally. A postmortem analysis of his brain revealed an extremely unexpected result: The boy had a prion disease. He was placed on a ventilator, but doctors were unable to save him, and he died in February 2012.ĭoctors knew the boy had a progressive brain disease, but exactly which disease had eluded them. In the fall of 2011, the patient was hospitalized for pneumonia, and five months later, he was re-hospitalized for life-threatening breathing problems. Over the next few years, the boy's condition continued to get worse - he had difficultly chewing and swallowing, and during one hospitalization, doctors said he appeared delirious, but it was not clear if this was due to his condition, or the medications he was taking. When the boy eventually left the hospital, he was in a wheelchair and no longer able to attend school, the report said. Doctors thought the boy might have inflammation in his brain, possibility caused by an autoimmune disease.
Over the following weeks, the boy's memory and walking ability continued to decline. During that hospital stay, a doctor saw the boy was exhibiting involuntary movements of his arms and legs, and he was transferred to a rehabilitation center.
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