Clinical History
The patient is a 44-year-old woman with progressive, episodic weakness. Her past medical history includes erythropoietic porphyria and prior alcohol use. She is currently taking trazodone, gabapentin, and buspirone. Her physical exam reveals normal sensation and 4/5 strength throughout.
What’s your diagnosis?
Findings:
- Acute neurogenic atrophy
- Type II myofiber atrophy
Diagnosis and Discussion:
Porphyria is not known to be associated with myopathy; however, motor-axonal neuropathy has been described. These findings could be consistent with a porphyria syndrome.
References:
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- Muley SA. Neurology. 1998;51:262-5.; Gerischer LM. Brain Behav. 2021;11:e2389.
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