Neuromuscular ultrasound in the differentiation between demyelinating and axonal porphyric neuropathy
DOI:
https://doi.org/10.28957/rcmfr.331Keywords:
Acute intermittent porphyria, polyneuropathies, ultrasonography, electrodiagnosis, electromyographyAbstract
Introduction. Porphyrias are hereditary diseases secondary to mutations in genes that encode for proteins necessary in the metabolism of heme, it presents with an incidence of 1: 1700 and acute attacks only appear in 1% of these, even less frequent is the porphyric polyneuropathy that has classically been described as having axonal characteristics, although some cases of primary demyelination have been reported.
Case presentation. 26-year-old female with a history of acute intermittent porphyria who presents distal paresis in all four extremities, predominantly in the lower limbs, associated with boot and glove hypoesthesia. Neuronductions showed prolonged latencies and decreased conduction velocities compatible with demyelination. Electromyography showed denervation and reinnervation. Nerves with normal or decreased cross-sectional area (CSA) were found on neuromuscular ultrasound.
Conclusion. The finding of nerves with normal or decreased CSA is unlikely in demyelinating neuropathies and compatible with axonal degeneration. Neuromuscular ultrasound could improve the diagnostic performance of electrophysiological studies for differences primarily axonal or demyelinating polyneuropathy.
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