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Progressive external ophthalmoplegia - A case report.

Ashmeet Kaur1, Kusum Mathur1, Anita Harsh1

  • 1Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.

Indian Journal of Pathology & Microbiology
|December 12, 2023
PubMed
Summary

Progressive external ophthalmoplegia, a hereditary mitochondrial myopathy, typically affects eye muscles. This report details a rare case in a 16-year-old female, highlighting characteristic histological findings.

Keywords:
Cytochrome-c oxidase negativemitochondrialmuscle fibresophthalmoplegiaprogressive external ophthalmoplegiaragged red fibres

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Area of Science:

  • Neurology
  • Genetics
  • Ophthalmology

Background:

  • Progressive external ophthalmoplegia (PEO) is a hereditary mitochondrial myopathy affecting extraocular muscles.
  • Mitochondrial disorders often present with overlapping clinical, enzymatic, and genetic features.
  • Combined deficits in complexes I and IV are the most frequent enzyme defects in PEO.

Observation:

  • This article presents a rare case of PEO in a 16-year-old female.
  • The patient exhibited characteristic symptoms of ophthalmoplegia and bilateral ptosis.
  • Histological examination revealed features consistent with PEO.

Findings:

  • The case underscores the variability and presentation of mitochondrial myopathies.
  • Histological findings confirmed the diagnosis of progressive external ophthalmoplegia.
  • The patient's symptoms were unresponsive to anticholinergic treatment.

Implications:

  • This case contributes to the understanding of rare mitochondrial myopathies.
  • Highlights the importance of histological analysis in diagnosing PEO.
  • Emphasizes the limited treatment options and the palliative role of corrective surgery for ptosis.