The Curious Tale of a Narcolepsy Case Evolving to Dementia and Premature Death

Coming back from Scandinavia last week, I had the pleasure of meeting for the first time Atle Melberg, a 59-year-old physician working in Uppsala, close to Stockholm, Sweden. Dr. Melberg, who I had only known through email for the last 10 years, is certainly a character; meeting him was one of the highlights of my trip! Born in Norway, he had several careers in multiple countries, including being a member of the swimming team at the University of Wisconsin, Madison, where he received a B.S. degree majoring in biochemistry. He only started in medicine at age 31, after medical studies at the Royal College of Surgeons in Ireland, Dublin. Setting up in Uppsala in 1990, he found his calling in neurology, training there and applying a discipline similar to his regular swimming routine to his profession as a neurologist. Speaking to his trainees, he is somewhat of a legend as an astute and dedicated clinician of few words but many deeds. As I learned later, neurologists are too few and overworked in Sweden, something that leaves Dr. Melberg totally unfazed.

Upon his arrival in Sweden, his department head suggested to Dr. Melberg that he not only complete his neurology training but also make a research contribution, a custom that has largely disappeared from medical education today. Among the neurological disorders that peaked his interest were mitochondrial disorders, strange diseases where the mitochondria -- the "energy factory" of the cell -- is defective. This is often the result of genetic defects that transmit through the mother's line. (Mitochondria have their own special genomes and come from the egg, not the sperm.) As mitochondria are present in all cells of the body, mitochondrial disorders have very complex manifestations that can affect diverse organs such as the heart, the endocrine system (causing, for example, diabetes), and, for reasons not always well understood, some but not other aspects of brain function. These brain conditions typically lead to balance problems (ataxia due to cerebellum issues), deafness (due to the inability of the inner ear to react to sounds), or blindness (due to degeneration of the optic nerve). Many different genetic defects are now known to cause mitochondrial diseases, and these have particular manifestations and associated genetic tests. During his training, Dr. Melberg made a special effort in collecting and learning about patients with these diseases in Sweden, often traveling long distances to see specific patients and trying therapies.

One day late in 1990, a patient presented that did not exactly fit the picture of known mitochondrial diseases, piquing his interest. The patient, a 44-year-old man, reported having had increased problems with sleepiness in the last 20 years, falling asleep at his job and being increasingly tired. He also was finding his dreams to be increasingly more vivid and disturbing, sometimes so real that he was not sure these were dreams anymore. He would also occasionally find himself waking up paralyzed when coming out of a dream, or feel weak in his body during the daytime when confronted with specific emotions. Although this had occurred for many years, he had not bothered discussing this with a doctor until things started to change.

Read full article at The Huffington Post...

Source: 
The Huffington Post