Neurology
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 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.
CADASIL
New England Journal of Medicine case of a 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members.