Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease

摘要

A 20-year-old female patient was admitted to our department due to ptosis, double vision, anddifficulty walking. The symptoms had evolved during the course of 2 months. She had neverbeen very athletic and was described as always having been a “slow runner,” but otherwise herprevious history was unremarkable. There was no family history of neurologic disease. Therewere no preceding triggering factors such as infections, fever, or physical stress, and the patientdid not take valproate. On examination, she had bilateral external ophthalmoplegia and ptosis,grade 4 proximal and distal paresis in the lower extremities, grade 4 distal paresis in the upperextremities, distal sensory loss (for all sensory modalities), and sensory ataxia. After severalmonths, she started experiencing a very slow improvement, which is—at the presentmoment—still incomplete.