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. 


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.