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Tübüler agregat miyopati: olgu sunumu

Tubular aggregate myopathy: a case report

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Abstract (2. Language): 
A twenty six-year-old man applied to hospital with cramps, stiffness and weakness attacks triggered by exercise, and a muscle biopsy was performed with a probable diagnosis of myopathy. Histologically, subsarcolemmal vacuoles staining pale with hematoxylene eosin, red with modified Gomori's trichrome and intensive blue with nicotinamide adenine dinucleotide-tetrazolium reductase were seen. Vacuoles were observed in only type 2 fibers. They did not stain with succinic dehydrogenase. The patient was diagnosed to have tubular aggregate myopathy. Because these vacuoles are seen bright red with modified Gomori's trichrome and blue with nicotinamide adenine dinucleotide-tetrazolium reductase, tubular aggregate myopathy may be confused with mitochondrial myopathies histologically.
Abstract (Original Language): 
Yirmi altı yaşındaki erkek hasta, kramp, katılık ve egzersizin tetiklediği güçsüzlük atakları ile hastaneye başvurmuş ve miyopati ön tanısı ile kas biyopsisi yapılmıştır. Histolojik incelemede, hematoksilen eozin boyalı kesitlerde soluk, modifiye Gomori trikrom boyalı kesitlerde kırmızı ve nikotinamid adenin dinükleotid-tetrazolium redüktaz boyalı kesitlerde mavi boyanan subsarkolemmal vaküoller izlendi. Vaküoller sadece tip 2 liflerde görüldü. Vaküoller süksinik dehidrogenaz ile boyanmadı. Olguya tübüler agregat miyopati tanısı kondu. Vaküoller modifiye Gomori trikrom boyalı kesitlerde parlak kırmızı ve nikotinamid adenin dinükleotidtetrazolium redüktaz boyalı kesitlerde mavi boyanmaları nedeni ile, tübüler agregat miyopatiler histolojik olarak mitokondriyal miyopatilerle karıştırılabilir.
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REFERENCES

References: 

1. De Groot JG, Arts WF. Familial myopathy with tubular
aggregates. J Neurol 1982; 227: 35-41.
2. North K. Congenital myopathies. In: Engel AG, FranziniAmstrong C (eds). Myology. 3rd ed. Vol 2. New York:
McGraw-Hill, 2004: 1473-1533.
3. Kim NR, Suh YL. Tubular aggregate myopathy: a case
report. J Korean Med Sci 2003; 18: 135-140.
4. Shoubridge EA, Molnar MJ. Oxidative phosphorylation
defects. In: Karpati G (ed). Structural and Molecular Basis
of Skeletal Muscle Diseases. Basel: Neuropath Press,
2002: 202-213.
5. Pierobon-Bormiooli S, Arani M, Ringel SP, et al. Familial
neuromuscular disease with tubular aggregates. Muscle
Nerve 1985; 8: 291-298.
6. Negro AV, Angulo M, Pomar JMR, Errasti CA. Tubular
aggregates in skeletal muscle of chronic alcoholic patients.
Acta Neuropathol 1982; 56: 250-254.
7. Dimauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Engel AG, Franzini-Amstrong C (eds).
Myology. 3rd ed. Vol 2. New York: McGraw-Hill, 2004:
1623-1662.
8. Andreu AL, Hanna MG, Reichmann H, et al. Exercise
intolerance due to mutations in the cytochrome b gene of
mitochondrial DNA. N Engl J Med 1999; 341: 1037-
1044.
9. Muller HD, Vielhaber S, Brunn A, Schroder JM.
Dominantly inherited myopathy with novel tubular
aggregates containing 1-21 tubulofilamentous structures.
Acta Neuropathol 2001; 102: 27-35.
10. Engel WK, Bishop DW, Cunningham CG. Tubular
aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res 1970; 31: 507-
525.

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