Deniz YÜCEL, Turgut KARAGÖL, Ülgen KÖKEŞ, Serdar AYKAÇ, Fazilet HIZ, Meral ÇINAR

Progresif oftalmopleji, gastrointestinal ve otonom tutulumla giden mitokondriyal miyopati olgusu

Bilimsel Zemin: Mitokondrial miyopatiler kalıtımsal ya da edinsel olabilir ve genellikle 20 yaşından önce görülür. Multisistem tutulumu, oftalmopleji, egzersiz intoleransı en sık görülen bulgulardır. Kearns-Sayre, MELAS, MERRF, NARP, MNGIE, CPEO alt tiplerinde olabilir.Amaç: Genetik inceleme yapılamayan, biyopsi sonucu mitokondiriyal miyopati saptanan olgu, klinik olarak progresif eksternal oftalmopleji, gastrointestinal ve otonom bulgularıyla CPEO ve MNGIE birlikteliğini düşündürdü. Olgu, mitokondiriyal myopati alt gruplarının birlikte görülebilme olasılığını vurgulamak için sunuldu.Olgu: 33 yaşında erkek olgu, erken çocukluk döneminden itibaren ses kısıklığı, katarakt, egzersiz intoleransı, progresif proksimal kas güçsüzlüğü, bilateral pitoz, nazone konuşma, disfaji, kusma, diyare, vertigo, senkop yakınmalarıyla incelendi. Öykü, laboratuar, elektrofizyolojik inceleme, görüntüleme ve biyopsi sonuçlarıyla mitokondriyal miyopati ile uyumluydu.Yorum: Mitokondrial miyopatilerde, alt grupların belirlenmesi için biyokimyasal inceleme ve dokuda genetik inceleme gereklidir. Buna rağmen mitokondriyal miyopatilerde bugün için kesin tedavi bulunmamaktadır. Yaşamı tehdit eden bu grup hastalıklar hakkında, hastaların bilinçlendirilmesi yaşam planları açısından önemli olup erken tanı önemlidir.

Mitochondrial myopathy case with progressive ophtalmoplegia, gastrointestinal and autonomic involvement

Scientific Background: Mitochondrial myopathies can be hereditary or acquired and generally seen before 20 years old. Multisystem involvement, ophtalmoplegia, exercise intolerance are the most common symptoms. Can be found in Kearns-Sayre, MELAS, MERRF, NARP, MNGIE, CPEO subtypes.Objective: The case who could not be investigated genetically and who was diagnosed as mitocondrial myopathy after the biopsy; made us think about CPEO and MNGIE association with clinically findings like progressive ophtalmoplegia , gastrointestinal and autonomic involvements.The case is reported to emphasize the possibility of the coexistence of mitochondrial myopathy subgroups.Case: 33 years old male case examined with findings of hoarseness, cataract, exercise intolerance, progressive proximal muscle weakness, bilaterally ptosis, nasal voice, dysphagia, vomiting, diarrhea, vertigo and syncope. The case was consequent with mitochondrial myopathy with history and results of laboratory, electrophysiological, imaging techniques and biopsy.Conclusion: Biochemical analysis and tissue genetic analysis are necessary to determine subgroups of mitochondrial myopathies. Nevertheless, there are no certain treatment for mitochondrial myopathies currently.It is important to raise awareness of patients about this group of life threatening diseases and early diagnosis is importent.

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