Abstract
This is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met in OPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteristics of the SLL on MRI, and the results of prospective investigations for subclinical involvement of organs so far clinically unaffected.
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JF: design, literature search, discussion, first draft, critical comments.
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Finsterer, J. Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. Metab Brain Dis 35, 253–254 (2020). https://doi.org/10.1007/s11011-019-00523-z
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DOI: https://doi.org/10.1007/s11011-019-00523-z