AI Article Synopsis

  • Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disorder leading to progressive eyelid drooping and eye movement issues, often misdiagnosed as other conditions.
  • A case study of a 34-year-old woman illustrates the potential for misdiagnosis, where her symptoms led to incorrect diagnoses of myasthenia gravis and cranial polyneuritis before confirming CPEO through a skeletal muscle biopsy.
  • The study highlights the importance of recognizing the varied symptoms of CPEO, summarized findings from 26 similar cases, and reviews diagnostic approaches to differentiate it from other diseases.

Article Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility. Owing to its nonspecific clinical manifestations, CPEO is often misdiagnosed as other conditions. Herein, we present the case of a 34-year-old woman who primarily presented with incomplete left eyelid closure and limited bilateral eye movements. During the 6-year disease course, she was diagnosed with myasthenia gravis and cranial polyneuritis. Finally, skeletal muscle tissue biopsy confirmed the diagnosis. Biopsy revealed pathological changes in mitochondrial myopathy. Furthermore, mitochondrial gene testing of the skeletal muscle revealed a single chrmM:8469-13447 deletion. In addition, we summarized the findings of 26 patients with CPEO/Kearns-Sayre syndrome who were misdiagnosed with other diseases owing to ocular symptoms. In conclusion, we reported a rare clinical case and emphasized the symptomatic diversity of CPEO. Furthermore, we provided a brief review of the diagnosis and differential diagnosis of the disease.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10797034PMC
http://dx.doi.org/10.3389/fneur.2023.1268053DOI Listing

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