Unfortunately, all vacations must come to an end. The AANP meeting in Seattle went quite well, and did a good job of highlighting the potential diagnostic pitfalls of muscle biopsies (i.e. scared a lot of people). It was really nice to get back home though. I just finished "checking out" at UT Southwestern, so I am no longer employed by UT Southwestern. Next up, I start my new job in Southern California on Tuesday. And so the adventure continues...
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.
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| Gross brain; vertex |
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| Coronal section, level of nucleus accumbens |
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| Cross sections, brain stem and cerebellum |
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| Substantia nigra, low-power; H&E |
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| Subthalamic nucleus; H&E |
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| Anterior horn, spinal cord; H&E |
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| Cerebellar cortex; H&E |
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| 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!
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