A 73-year-old man presented with decades of slowly progressive bilateral ptosis and hearing loss. He also had peripheral polyneuropathy, intermittent binocular diplopia, and mild dysphagia and dysarthria. His mother and maternal grandmother had similar symptoms. He later discovered a vintage painting of his maternal great-grandfather (figure), which showed marked ptosis, disconjugate gaze, and facial weakness. Autosomal and maternal mitochondrial genome sequencing from blood revealed likely pathogenic heterozygous mutations at C10ORF2:c1366C > G (p.Leu456Val). The patient was diagnosed with autosomal dominant progressive external ophthalmoplegia, which can be associated with missense mutation of the C10orf2 gene encoding mitochondrial DNA helicase.1
While there are many examples of such strong family history, the painter highlighted astonishing details of severe ptosis, disconjugate gaze, and facial weakness, similar to the patient's presentation. Reprinted with permission of the family.
Author contributions
Janice C. Wong: interpretation of data, writing of manuscript, editing of manuscript for critical content. Laura A. Foster: interpretation of data, editing of manuscript for critical content. Reza Sadjadi: conception of study, interpretation of data, writing of manuscript, editing of manuscript for critical content, patient follow-up.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
- © 2018 American Academy of Neurology
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