My top 3 head scratchers to date are occurring in people i know and love.
Active female in early 30's with onset of ascending leg numbness, difficulty walking and extremity pain, specifically in the limbs that are having sensory deficits. She said it started with a weird constellation of symptoms that included right leg numbness, the sense that she could feel her leg hair growing which proceeded to be leg pain with shaving the hair on her legs and later difficulty climbing stairs (uncoordinated gait and muscle weakness) and some urinary incontinence due to saddle numbness.
Another active female in early 30's with a persistent cough and tickle in her throat lasting > 3 years. She was initially evaluated by her PMD and later several ENT doc's who said she has silent GERD (gastroesophageal reflux disease) - to which end she ceased eating and drinking many offending items that would exacerbate this condition as well as using a PPI. No improvement. She went back to ENT and had an upper endoscopy and they confirmed silent GERD and put her on aciphex which has NOT improved the symptoms but caused her to have terrible bloating and bad headaches. Switched her to Zegerid which also caused terrible bloating and a 5 lb weight gain in 5 days. She was told she should have an esophageal monometry performed but that it would be very unpleasant and she's loath to spend another $50 co-pay for a very unpleasant procedure that she now doubts will yield any new information. Enter family member who had the same symptoms and went through much of the same work-up and treatment and eventually had a smart MD do an upper endoscopy with a dye that highlighted a small patch of gastric mucosa cells lining her throat. What the hell is that? Hard to find any literature on it and my friend is beside herself with who to go to since her family member said she went to a GI guy who was venerated and hadn't thought to do it. Hit or miss, eh?
Lastly, healthy female in her early 40's presents with sudden onset of binocular visual defect: a white spot that is seen in the center of both visual fields and when she closes her eyes. Said white spot is slightly shimmery and gets larger and larger with the center disappearing to have normal vision there now with a O of white-out that eventually ended in a C-shape on the periphery of her vision. This first episode lasted 2 hours and was accompanied by mild nausea and followed by a mild headache that subsided without intervention. The second episode was10 days following the first with the visual changes only lasting 30 minutes and a third episode less than a week later with even shorter duration. Migraines? Occular Migraines? Amorosis Fugax? WTF? Neuro consult? Ophtho consult? Head CT? MRI?
Inquisitive minds continue to ponder and advise.
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