A CASE OF ADULT ONSET PURE MITOCHONDRIAL MYOPATHY
Journal Name:
- İstanbul Tıp Fakültesi Dergisi
Key Words:
Keywords (Original Language):
Author Name | University of Author | Faculty of Author |
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Abstract (2. Language):
Mitochondriopathies (MCPs) are a group of disorders that are caused by an inability in the synthesis of mitochondrial
proteins or transfer RNA (tRNA) and ribosomal RNA (rRNAs) encoded by nuclear DNA (nDNA) or mitochondrial
DNA (mtDNA) either due to sporadic or spontaneous mtDNA or nDNA mutations or due to exogenous
noxious influences like drugs, toxins or infections and these disorders have various clinical presentations. It is believed
that >95% of the MCPs are caused by nDNA mutations. In this paper, we present a case of adult onset pure
mitochondrial myopathy. A46 year-old male had complaints of exertional dyspnea which progressively developed
in twelve years, palpitation, bilateral eyelid drooping and proximal muscle weakness. Serum CPK, lactate, piruvate
and lactate/piruvate levels of the patient were high. There was mild-moderate restrictive respiratory distress.
Myogenic pattern was found in EMG. The diagnosis was established by mitochondrial accumulation in subsarcolemmal
regions [“ragged red fiber” (RRF)] in many and the lack of COX activity in a small number of muscle fibers.
Common deletion has been found in genetic analysis. The patient was accepted as adult onset pure mitochondrial
myopathy, as he had only muscle findings clinically and pathologically.
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Abstract (Original Language):
Mitokondriyopatiler (MKP), nükleer DNA (nDNA) veya mitokondriyal DNA (mtDNA) taraf›ndan kodlanan
mitokondriyal proteinlerin veya transfer RNA (tRNA) ve ribozomal RNA (rRNA)n›n, mutasyon
sonucu (primer) ya da baz› ilaçlar, toksinler, infeksiyonlar vb. ekzojen faktörlerle (sekonder) sentezlenememesi
sonucu geliflen ve de¤iflik klinik tablolarla ortaya ç›kan bir hastal›k grubudur. Olgular›n %95’inden
fazlas›nda nDNA’daki mutasyonlar sorumludur. Burada eriflkin bafllang›çl› saf mitokondriyal myopati
olgusu sunulmufltur. K›rkalt› yafl›ndaki erkek hastada son oniki y›lda giderek artan efor dispnesi, çarp›
nt›, her iki gözkapa¤›nda düflüklük ve proksimal kas güçsüzlü¤ü vard›. Hastan›n serum CPK, laktat, piruvat
ve laktat/piruvat düzeyleri yüksekti. Hafif-orta derecede restriktif tipte solunum yetersizli¤i vard›.
EMG’de myojenik tutulum bulundu. Tan› kas biyopsisinde birçok kas lifinde subsarkolemmal alanda mitokondriyal
birikim [“ragged red fiber” (RRF)] görülerek konuldu. Ayr›ca baz› kas liflerinde COX aktivitesi
de yoktu. Genetik analizinde de “common” delesyon saptand›. Olgumuz klinik ve patolojik olarak
sadece kas bulgular›n›n olmas› nedeniyle eriflkin bafllang›çl› saf mitokondriyal myopati olarak kabul
edilmifltir.
FULL TEXT (PDF):
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