"Syndrome" is derived from Greek roots, meaning "to run together." A syndrome by definition consists of diverse findings that seem at first glance to have nothing to do with each other -- such as severe obesity, low oxygen levels, and a propensity for falling asleep at odd times. The three are indeed related, though; known as Pickwickian syndrome (after a Dickens character).
Uncovering a syndrome is as though we entered a room and found the pieces of a hundred different puzzles scattered all over the floor. To define their relationship is to recognize that a few of the pieces occur together again and again, and then begin piecing them together to form a coherent picture.
What physician wouldn't want to discover a syndrome? After all, the medical textbooks and journals are full of them, and acquiring syndromic status can be a one-way ticket to medical immortality. Some of the great figures in medicine are enshrined in this way, including Herman Boerhaave (Boerhaave syndrome -- a tear in the esophagus from vomiting), Harvey Cushing (weight gain, round face, and thinning of the skin due to excessive steroid levels), and John Down (a grouping of congenital findings associated with having an extra copy of chromosome 21).
This man had in fact visited more than 20 different healthcare facilities with the same set of complaints, though he always identified himself with a different name and address.
Such a brush with immortality happened to a radiologist when he came across the third case of a remarkable grouping of findings in a single year. In the first instance, the patient had been a 60-something year old man with a history of a blow to the head. He had lost touch sensation in his legs, and he was suffering from priapism, a prolonged erection. The emergency room physician caring for him had ordered a head CT scan, which showed a subtle abnormality. The radiologist recommended an MRI, which clearly showed a cyst at the back of the brain.
The radiologist thought the case peculiar, but did not pursue it further. A few weeks later, he received a call from a colleague who reported seeing more or less the same thing: a 60-something year old man with a history of head trauma who presented with a sensory level and priapism. This struck the radiologist as intriguing, but other responsibilities supervened, and soon he forgot about it. Then nearly a year later, he came across a third remarkably similar case, with the same history and physical exam findings. In each case, scans showed a cyst in the back of the brain.
The moment the radiologist encountered the third case, his pulse quickened, and he decided to write up the series of cases for publication. He could almost taste the glory of becoming the first physician ever to recognize the link between these unusual findings. But how in human anatomy and physiology could he connect up such apparently disparate features as head injury, loss of sensation in the lower extremities, priapism, and a brain cyst? What obscure neurologic pathway must tie them together?
Soon after he sat down to review the cases, however, his dreams of medical immortality began to evaporate. All three patients were not only in their 60s -- they were exactly the same age. And as he compared their MRI images, he made an even more unexpected yet disheartening discovery -- the cysts looked not only similar but positively identical. He compared the patients' names -- they were all different. He compared the patient identification numbers -- they were different, too. But how could three different patients have exactly the same rare cyst?
Only one explanation was possible. What he had discovered was not a remarkably similar constellation of findings in three different patients. What he had actually recognized was the very same patient who had presented at three different times at three different hospitals over a period of year. As he dug more deeply, he discovered that this man had in fact visited more than 20 different healthcare facilities with the same set of complaints, though he always identified himself with a different name and address.
What at first had seemed an entirely new neurologic syndrome was probably a manifestation of a rare but venerable psychiatric condition, sometimes referred to as Münchausen syndrome. It is named after Baron Münchausen, an 18th century German-Russian nobleman who attained renown for the remarkable stories he told about himself, later published by Rudolf Raspe under the title The Surprising Adventures of Baron Münchausen. Münchausen's tales of his service in the Russian cavalry were widely recognized by his contemporaries as highly exaggerated, if not unbelievable.