On to the case. I've been holding on to this case for quite awhile, as I didn't want to spoil the presentation of the case at the AANP diagnostic slide session. Now that is over, I can share what I thought was a fantastic case. This patient was an adolescent female with an 11-year history of tremor, gait instability, dysarthria, tongue fasiculations, and temperature instability. The immediate preterminal period was characterized by disabling dyskinesias, choking and aspiration, and progressive cognitive decline.
|Gross brain; vertex|
|Coronal section, level of nucleus accumbens|
|Cross sections, brain stem and cerebellum|
|Substantia nigra, low-power; H&E|
|Subthalamic nucleus; H&E|
|Anterior horn, spinal cord; H&E|
|Cerebellar cortex; H&E|
|Substantia nigra; H&E|
This is a classic "Aunt Minnie" diagnosis. If you've seen if before, the diagnosis is not difficult. If not, head scratching and shuffling pages ensues... Never fear, helpful immunostains will be provided!