Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

• Published in: Canadian journal of neurological sciences 2011-01, Vol.38 (1), p.119-123
• Main Authors: Pfeffer, Gerald, Sirrs, Sandra, Wade, N. Kevin, Mezei, Michelle M.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Biological and medical sciences; Diseases of striated muscles. Neuromuscular diseases; DNA, Mitochondrial - genetics; Electromyography; Female; Gastrointestinal Diseases - complications; Gastrointestinal Diseases - diagnosis; Gastrointestinal Diseases - genetics; Gene Deletion; Hearing Loss - etiology; Humans; Male; Medical sciences; Middle Aged; Mitochondrial Diseases - complications; Mitochondrial Diseases - epidemiology; Mitochondrial Diseases - genetics; Muscle Fatigue - physiology; Neurology; Ophthalmoplegia, Chronic Progressive External - complications; Ophthalmoplegia, Chronic Progressive External - epidemiology; Ophthalmoplegia, Chronic Progressive External - genetics; Original Article; Retrospective Studies
• ISSN: 0317-1671; 2057-0155
• DOI: 10.1017/S031716710001115X

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome on a disease spectrum with Kearns-Sayre syndrome (KSS). Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20. This descriptive study is a retrospective chart review of 40 patients with late-onset CPEO. Clinical features, laboratory and neurophysiology results were reviewed. Multisystem dysfunction was very common in this series. Gastrointestinal dysfunction was more common than expected (60%) as was migraine headache (40%). Clinical characteristics on the KSS disease spectrum were uncommon in this series with only 2.5% having pigmentary retinopathy, 5% with cardiac conduction abnormality, and 22.5% having endocrinopathy (most often thyroid dysfunction rather than diabetes). Neurophysiology abnormalities included length-dependent axonal polyneuropathy in 44% (sometimes subclinical) and myopathic EMG changes in 26%. Exposure to sources of acquired mitochondrial toxicity including cigarette use and hepatitis C infection were more common than expected in this series. Phenotype was different in this late-onset series compared with previous reports in CPEO patients. In this series of late-onset patients, multi-organ dysfunction was more common than previously reported in CPEO, and some classical mitochondrial manifestations, such as pigmentary retinopathy were rare. We suggest that acquired mitochondrial toxicity may have a role in the pathogenesis of adult-onset CPEO.