Metabolic
Sensory loss and exercise intolerance in a 27 year old man
A 27 year old man had sensory loss and exercise intolerance, and was sent home from the Emergency Department several times told he was “just fine”.
Glutaric Acidemia Type 1 at 14 months
A November 2002 account on the Save Babies Through Screening Foundation web site describes M, who became ill at 14 months: When I tried to awaken M from his nap, he was unresponsive. M was taken in for a CAT scan. The scan revealed a very large subdural hematoma (bleed) on the right side of his brain. A 19 May 2002 article in […]
Glutaric Aciduria Type 1
A parent’s account on the International Organization of Glutaric Acidemia web site told the story of A. She was fine until 7 months of age: Then she got an ear infection, and in the middle of the night she had a seizure, at which point we took her to the hospital. That was the last time she could […]
Porphyria
A 1 November 2009 New York Times Magazine Diagnosis column “Perplexing Pain” by Lisa Sanders MD describes a 46 year old woman with a 23 year history of “attacks of abdominal pain and fever that lasted sometimes for weeks”.