Clinical Cases
A 58 year-old woman with confusion and aphasia
In this case, we are presented with a previously well woman with the sub-acute development of neurologic abnormalities among other seemingly unrelated clinical findings for which a unifying diagnosis required multiple hospitalizations and expert consultation to discover. It was not until after she had undergone multiple rounds of immunosuppressive therapies that a unifying genetic diagnosis was identified.
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 […]
Schnitzler syndrome
A 14 February 2018 article “Her Various Symptoms Seemed Unrelated. Then One Doctor Put It All Together” in the New York Times “Diagnosis” feature by Lisa Sanders MD describes a difficult case. Doctors were unable to come up with a diagnosis for years until one heroic doctor figured out the answer. It started years earlier, […]
Granulomatosis with polyangiitis
A 13 August 2020 New York Times “Diagnosis” column “He Was an Active Guy. Suddenly His Legs Ached After a Few Blocks” by Lisa Sanders MD featured a case that had eluded diagnosis for months. Rosenblum and her intern, Melissa Mariscal, went through everything they knew about the patient: He had chronic sinusitis and a […]
CADASIL
New England Journal of Medicine case of a 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members.
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”.
Cohen syndrome
Washington Post “Medical Mysteries” article “A tiny baby who didn’t grow”. The case: A 7 year old girl born with low weight, floppiness and weak cry.