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Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations

  • Josef FinstererEmail author
Commentary
  • 19 Downloads

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.

Keywords

Optic atrophy Respiratory chain Mitochondrial disorder Oxidative phosphorylation Multiorgan Stroke-like episode 

Notes

Author contribution

JF: design, literature search, discussion, first draft, critical comments.

Compliance with ethical standards

Conflict of interest

There are no conflicts of interest.

References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Krankenanstalt RudolfstiftungMesserli InstituteViennaAustria

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