Clinical Cases


Genetics, Neurology

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. 



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