A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia. / 线ç²ä½èç
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Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 48(11): 1760-1768, 2023 Nov 28.
Article
en En, Zh
| MEDLINE
| ID: mdl-38432868
ABSTRACT
Mitochondrial myopathy is a group of multi-system diseases in which mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) defects lead to structural and functional dysfunction of mitochondria. The clinical manifestations of mitochondrial myopathy are complex and varied, and the testing for mtDNA and nDNA is not widely available, so misdiagnosis or missed diagnosis is common. Chronic progressive external ophthalmoplegia (CPEO) is a common type of mitochondrial myopathy, which is characterized by blepharoptosis. Here we report a 38-year-old female with mitochondrial myopathy presented with chronic numbness and weakness of the limbs, accompanied by blepharoptosis that was recently noticed. Laboratory and head magnetic resonance imaging (MRI) examinations showed no obvious abnormalities. Muscle and nerve biopsies showed characteristic ragged red fibers (RRFs) and large aggregates of denatured mitochondria. Testing for mtDNA and nDNA showed a known mutation c.2857C>T (p.R953C) and a novel variant c.2391G>C (p.M797I) in the polymerase gamma (POLG)gene, so the patient was diagnosed as mitochondrial myopathy. Clinicians should pay more attention to long-term unexplained skeletal muscle diseases with recent onset blepharoptosis. Histopathologic examination and genetic testing are of great value in the early diagnosis and therapeutic intervention.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Blefaroptosis
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Oftalmoplejía Externa Progresiva Crónica
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Miopatías Mitocondriales
Límite:
Adult
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Female
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Humans
Idioma:
En
/
Zh
Revista:
Zhong Nan Da Xue Xue Bao Yi Xue Ban
Asunto de la revista:
MEDICINA
Año:
2023
Tipo del documento:
Article