Mitochondrial Myopathy Case with Progressive Ophtalmoplegia, Gastrointestinal and Autonomic Involvement
Öz
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. Key Words; Chronic Progressive External Ophthalmoplegia, Mitochondrial Myopathy, RRF
Anahtar Kelimeler
Kaynakça
- Chu CC, Huang CC. Peripheral neuropathy in mitochondrial encephalomyopathies. Eur Neurol 1997;37(2):110-5.
- Driscoll PF, Larsen PD, Gruber AB. MELAS syndrome involving a mother and two children. Arch Neurol 1987;44(9): 971-3.
- Ciafaloni E, Ricci E, Shanske S. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31(4):391-8.
- Kawai H, Akaike M, Yokoi K. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve 1995;18 (7): 753-60.
- Marie SK, Carvalho AA. Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. Arq Neuropsiquiatr 1999;57(4):1017-23.
- Hirano M, Nishigaki Y. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 2004;10(1): 8-17.
- Lee WT, Wang PJ, Cytochrome c oxidase deficiency in fibroblasts encephalomyopathy.J Formos Med Assoc 1996; 95(9): 709-11. with mitochondrial
- Longo N, Schrijver I, Vogel H. Progressive cerebral vascular degeneration with mitochondrial encephalopathy; Am J Med Genet A 2008 1;146(3): 361-7.
- Gillis L, Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin N Am 2002; 49: 203-19.
Öz
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. Anahtar kelimeler: Kronik Progresif Eksternal Oftalmopleji, Mitokondriyal Miyopati, RRF
Anahtar Kelimeler
Kronik Progresif Eksternal Oftalmopleji Mitokondriyal Miyopati RRF
Kaynakça
- Chu CC, Huang CC. Peripheral neuropathy in mitochondrial encephalomyopathies. Eur Neurol 1997;37(2):110-5.
- Driscoll PF, Larsen PD, Gruber AB. MELAS syndrome involving a mother and two children. Arch Neurol 1987;44(9): 971-3.
- Ciafaloni E, Ricci E, Shanske S. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31(4):391-8.
- Kawai H, Akaike M, Yokoi K. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve 1995;18 (7): 753-60.
- Marie SK, Carvalho AA. Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. Arq Neuropsiquiatr 1999;57(4):1017-23.
- Hirano M, Nishigaki Y. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 2004;10(1): 8-17.
- Lee WT, Wang PJ, Cytochrome c oxidase deficiency in fibroblasts encephalomyopathy.J Formos Med Assoc 1996; 95(9): 709-11. with mitochondrial
- Longo N, Schrijver I, Vogel H. Progressive cerebral vascular degeneration with mitochondrial encephalopathy; Am J Med Genet A 2008 1;146(3): 361-7.
- Gillis L, Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin N Am 2002; 49: 203-19.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Şubat 2009 |
| Yayımlandığı Sayı | Yıl 2009 Cilt: 16 Sayı: 1 |