Chronic progressive external ophthalmoplegia plus

2025/07/03 by Mhezi, Victor, Kwikima, Ugumba, Jacob, Mboka +1
#Blepharoptosis #chronic progressive external ophthalmoplegia plus #extraocular muscles #magnetic resonance imaging #mitochondrial disease #ptosis

paper · doi:10.60787/wajr.vol31no1.105

Abstract

Chronic progressive external ophthalmoplegia (CPEO) is an uncommon mitochondrial myopathy that advances gradually, characterized by ophthalmoplegia and ptosis. CPEO can emerge as an isolated condition or as part of a syndrome involving additional neurological impairments, termed CPEO plus (CPEO+). CPEO+ requires comprehensive evaluation, where a multidisciplinary approach, encompassing neurological assessments of both central and peripheral systems, along with examinations of musculoskeletal and cardiac functions is recommended. Essential diagnostic tools include muscle biopsy, biochemical analysis of muscles, neuroradiological or orbital computed tomography/magnetic resonance imaging evaluation, and molecular genetic testing. Due to the scarcity of diagnostic facilities in sub‑Saharan Africa, including Tanzania, diagnosis of CPEO+ is delayed leading to patient suffering, however, its management remains intricate and noncurative. This article presents a rare case study of a 23‑year‑old male. He exhibits clinical, histological, and radiological characteristics consistent with CPEO+.

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