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A 15-year-old boy with a maternal family history of “optic neuropathy” presented with acute flaccid paralysis in both upper limbs. Cervical MRI demonstrated longitudinally extensive T2 lesions, with significant enhancement… Click to show full abstract
A 15-year-old boy with a maternal family history of “optic neuropathy” presented with acute flaccid paralysis in both upper limbs. Cervical MRI demonstrated longitudinally extensive T2 lesions, with significant enhancement of the anterior gray matter. Typical “snake-eye” appearance was observed in the follow-up MRI 1 month later (Figure). Analysis of blood mt-DNA revealed a homoplasmic m.14495T>C mutation, confirming the diagnosis of Leber hereditary optic neuropathy (LHON). Idebenone 900 mg/d was given to him, and he recovered completely 3 months later.
Journal Title: Neurology
Year Published: 2022
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