Cureus. 2026 Sep 18;18(9):e116467. doi: 10.7759/cureus.116467. eCollection 2026 Sep.
ABSTRACT
Chronic progressive external ophthalmoplegia (CPEO) exists on a wide phenotypic continuum. The systemic propagation of cellular metabolic impairment frequently precipitates a heterogeneous spectrum of neurogenic, myopathic, and cardiovascular manifestations, clinically designated as CPEO-plus. Beyond the highly susceptible extraocular muscles, other metabolically intensive muscular tissues remain vulnerable to compromised function. Diagnosing CPEO remains challenging because its ocular signs overlap significantly with other conditions. Furthermore, CPEO-plus must be distinguished from Kearns-Sayre syndrome. This case report documents a 43-year-old female patient exhibiting classic ocular manifestations of CPEO, supported by a positive family history and elevated serum lactate levels. The clinical presentation is complicated by atypical features, including mild unilateral facial palsy and signs of cardiac electrical remodeling (T-wave inversion), illustrating the significant phenotypic heterogeneity characteristic of CPEO-plus syndromes.
PMID:42894731 | PMC:PMC13676776 | DOI:10.7759/cureus.116467