An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2008-12-24

AUTHORS

Takashi Yuri, Yaeko Kondo, Keiko Kohno, Yen-Chang Lei, Seika Kanematsu, Maki Kuwata, Toshiji Iwasaka, Airo Tsubura

ABSTRACT

An autopsy of a 44-year-old Japanese woman with mitochondrial cytopathy confirmed the presence of chronic progressive external ophthalmoplegia (CPEO). Immunohistochemistry using antimitochondrial antibody was performed to observe the ultrastructure of the skeletal muscle and renal tissues. The patient was born of consanguineous parents, developed normally, and was of average intelligence. At 22 years of age, the patient noticed hearing loss, and subsequently, over time, developed a progressive generalized muscle weakness, which included limitation of eye movement and ptosis. At age 41, a muscle biopsy was performed using the modified Gomori trichrome method and demonstrated the presence of ragged red fibers. After the evaluation of her results in conjunction with her clinical course, she was diagnosed with CPEO. Renal insufficiency was discovered at age 30, and the patient died at the age of 44 of respiratory failure caused by respiratory muscle weakness and pneumonia. The autopsy revealed fiber size variation within the skeletal muscle, and an antimitochondrial antibody analysis demonstrated the accumulation of mitochondria between the bundles of myofibrils, as well as in subsarcolemmal locations. Ultrastructurally, abnormal mitochondria with disoriented cristae and paracrystalline inclusions were seen. Although no remarkable histological changes were noted in the kidneys, tubular epithelial cells exhibited accumulated abnormal mitochondria, similar to those seen in the skeletal muscle. Because mitochondrial diseases can affect other energy-dependent organs in addition to the skeletal muscle, immunohistochemical examina-tions employing an antimitochondrial antibody are useful for obtaining further ultrastructural observations that can assist in making a distinct diagnosis of this systemic disorder. More... »

PAGES

233

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00795-008-0420-0

DOI

http://dx.doi.org/10.1007/s00795-008-0420-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040399211

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19107614


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