Medical mysteries

Now that I've left one hospital and moved to another, I find myself reflecting on how many cases were left unsolved. Not untreated or unresolved, but without the foggiest clue as to an answer. The following are some examples:

1. Spinal inflammation. Patient presented with loss of propioreception in the feet, ankles and lower legs. CSF showed inflammatory markers. Treatment with high dose steroids provided mild, temporary relief. Five months later the inflammation is still present, though propioreception is now in tact at and above the ankles. High dose steroids, IVIg and plasmaphoresis had no effect.

2. Severe, sudden onset rhabdomyolysis with no concurrent trauma. Rhabdomyolysis is a rapid breakdown of skeletal muscle and is usually seen when there is a trauma. This patient had muscle breakdown products in her blood at levels usually seen only in crush injury (ie part of a building falls on you), but had done nothing more arduous than work out. Best guess... virus?

3. Adolescent onset of type 1 diabetes with concurrent peripheral neuropathy. Usually type 1 diabetes (the autoimmune, insulin dependent one) presents in childhood, so the age of presentation is unusual, but not unheard of. The concurrent peripheral neuropathy however, is rare enough that I was going to write the case up for a journal (but never got around to it). Neuropathy usually takes years of poorly managed diabetes to emerge.

4. An infant had a hemangioma on her sacral spine so an MRI was performed. The scan revealed several round growths in her spinal column. It was unclear whether they were also hemangiomas or if they were tumors. A spinal tap was inconclusive. It was decided to monitor the growths rather than attempt a biopsy at this point.