Clinical Cases
Dysphagia and dysarthria in a 72-year-old woman
A New England Journal of Medicine CPC provides a wonderful illustration of why clinicians will retain their central role in diagnosis despite the advent of computer assistance in diagnosis.
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”.
Intermittent visual loss since 4 years old
The patient presented a diagnostic puzzle at multiple top medical centers, and was finally diagnosed after a diagnostic odyssey of 18 years. See how the SimulConsult diagnostic decision support makes the case very solvable by channeling the wisdom of a top neurologist.
A 10-month old male infant with hypercalcemia
Case Source The below case was abstracted from the July 10th, 2024 edition of Case Records of the Massachusetts General Hospital from the New England Journal of Medicine. N Engl J Med 2024;391:167-176 Patient Presentation A 10-month old male patient presented to the hospital with vomiting, increased thirst and failure to thrive. He had been previously healthy until […]
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.