[Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy].
Rinsho Shinkeigaku
; 62(12): 946-951, 2022 Dec 17.
Article
em Ja
| MEDLINE
| ID: mdl-36450492
ABSTRACT
A 48-year-old Japanese male experienced slowly progressive diplopia. He had no family history and was negative for the edrophonium chloride test. Blood analysis showed elevated lactic acid and pyruvic acid levels, suggesting mitochondrial disease. A muscle biopsy from the biceps brachii was performed, but no pathological or genetical mitochondrial abnormalities were detected. Subsequently, he underwent muscle plication for diplopia in which the right inferior rectus muscle was biopsied. Genetic examination of genomic DNA extracted from the extraocular muscle tissue revealed multiple mitochondrial gene deletions, with a heteroplasmy rate of approximately 35%, resulting in the diagnosis of chronic progressive external ophthalmoplegia. In mitochondrial diseases, the tissue distribution of mitochondria with disease-associated variants in mtDNA should be noted, and it is important to select the affected muscle when performing a biopsy for an accurate diagnosis.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Oftalmoplegia
/
Oftalmoplegia Externa Progressiva Crônica
Idioma:
Ja
Ano de publicação:
2022
Tipo de documento:
Article