Here is another case that belongs to the "look at it now, because you're never going to see it again" category. A bonus is the fact that this is a textbook case of what it is...
This patient was a 19-year-old female with progressive cognitive decline, blindness, and muscle weakness following an apparently normal childhood. Several "cerebral infarcts" were documented in the last few years.
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| Axial T2 |
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| Brain, external (lateral) |
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| Brain, external (dorsal) |
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| Brain, coronal (level of thalamus) |
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| Brain, coronal (occipital lobes) |
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| Brain, H&E, crest of gyrus, occipital lobe |
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| Brain, H&E, depth of sulcus, occipital lobe |
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| Brain, H&E, cavitary lesions in crest of gyrus |
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| Brain, H&E, adjacent to cavitary lesion |
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| Quadriceps femoris, H&E, cryostat |
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| Quadriceps femoris, Gomori trichrome, cryostat |
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| Quadriceps femoris, succinate dehydrogenase (SDH), cryostat |
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| Quadriceps femoris, COX/SDH combo, cryostat |
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| Quadriceps femoris, oil red O (ORO), cryostat |
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| Quadriceps femoris, electron microscopy |
This case is particularly challenging on a few levels. First, proper work-up of this case required utilization of techniques unfamiliar to many pathologists, namely enzyme histochemistry on frozen muscle and ultrastructural examination. Secondly, to arrive at the correct diagnosis, the clinical presentation, as well as the findings in the brain and skeletal muscle, must be considered. Nonetheless, it is a great case with classic pathologic features...
As far a guidance, I would emphasize paying particular attention to the distribution of the lesions in the cerebral parenchyma. The muscle biopsy speaks for itself, but only if you are familiar with the function of the particular stains. Electron microscopy was interesting, but I wouldn't spend too much time pontificating on the particulars...
