Chronic progressive external ophthalmoplegia vs. myasthenia gravis – case report and review of literature
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Abstract:
The mitochondrial myopathy consists of a heterogeneous group of conditions characterized by primary disfunction of mitochondrial respiratory chain causing muscle disease.Chronic progressive external ophthalmoplegia is a frequent mitochondrial disorder that shares clinical, enzymatic and genetic features with other mitochondrial diseases.We present a case of a patient who was initially diagnosed with myasthenia gravis, did not respond to specific therapy and was subsequently diagnosed by clinical, biochemical and histopathological criteria with a mitochondrial myopathy.A 37 years old woman, suspected and treated for myasthenia gravis presented with ptosis, marked fatigue, muscle weakness and myalgia, symptoms that progressively got worse despite the anticholinesterase therapy.Knowledge of this entity allows us to avoid unnecessary treatment and deferral of the real diagnosis.Keywords:
myalgia
External ophthalmoplegia
Mitochondrial disease
Muscle weakness
Neuromuscular disease
A 64-year-old female had slowly progressive bilateral external ophthalmoplegia, blepharoptosis and muscle weakness of the extremities since age 30. Laboratory examination showed an elevation of serum CK level. Biopsied specimens from the left biceps and the left orbicularis oculi muscles revealed myopathic change with infiltration of mononuclear cells. In addition, some ragged-red fibers and a few cytochrome c oxidase-negative fibers, which are characteristic of mitochondrial myopathy, were observed. Polymerase chain reaction analysis of mtDNA in the muscles showed multiple mtDNA deletions. On administration of prednisolone (initial dose, 60 mg/day), blepharoptosis and muscular strength improved transiently and serum CK level was normalized but external ophthalmoplegia was not improved. We diagnosed our case as chronic progressive external ophthalmoplegia (CPEO). This is the first report of CPEO presenting as inflammatory myopathy.
External ophthalmoplegia
Prednisolone
Inflammatory myopathy
Infiltration (HVAC)
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Mitochondria myopathies have a variable clinical presentation and CPEO(chronic progressive external ophthalmoplegia) is the hallmark which should alert the clinician to this diagnosis. Herein we report a-40-year old lady with progressive ptosis without diplopia and without any similar family history who was diagnosed as having a mitochondrial myopathy and given supportive therapy. Keywords : Mitochondrial myopathies, Ptosis, Ophthalmoplegia, Diplopia, Family history
External ophthalmoplegia
Presentation (obstetrics)
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External ophthalmoplegia
Mitochondrial disease
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Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including mitochondrial diseases. A case with chronic progressive external ophthalmoplegia with onset during childhood, associated with proximal myopathy and dysphasia is presented. The muscle biopsy showed a myopathic pattern and abnormal subsarcolemmal mitochondrial deposits. Muscle biopsy for important in the correct diagnosis of this entity.
External ophthalmoplegia
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External ophthalmoplegia
Mitochondrial disease
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Multiple deletions of mitochondrial DNA (mtDNA) have recently been reported in familial progressive external ophthalmoplegia (PEO), in a case of progressive encephalomyopathy, and in inherited recurrent myoglobinuria. The inheritance of familial PEO has been autosomal dominant, which indicates that a mutation in an unknown nuclear gene results in several mtDNA deletions of different sizes in these patients. We report a patient with autosomal dominant PEO, whose major clinical symptom, however, was severe retarded depression. The morphological analyses of the tissue samples derived from autopsy showed various abnormalities in the mitochondria in all the tissues studied. The activities of the respiratory chain enzymes encoded by mtDNA were remarkably reduced in the skeletal muscle. The mtDNA analyses confirmed that besides myopathy, this patient had a multisystem disorder with widespread distribution of multiple deletions of mtDNA. The highest percentage of mutated mtDNA was found in the brain, skeletal muscle and the heart, the relative quantity of mutated mtDNA correlating to the severity of the clinical symptoms.
External ophthalmoplegia
Mitochondrial encephalomyopathy
Mitochondrial disease
Nuclear DNA
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Heteroplasmy
External ophthalmoplegia
Mitochondrial disease
Muscle weakness
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Mitochondrial diseases are a large group of disorders resulting from mutations of nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Patients present clinically with multiple manifestations, including myopathies and multiple system disorders. Establishing a specific diagnosis often requires extensive clinical and laboratory evaluation. In this study of 2 adult patients with presumptive mitochondrial disease, the authors have identified distinctive morphological changes in medial rectus muscle biopsies that confirm the diagnosis of chronic progressive external ophthalmoplegia (CPEO). These findings demonstrate the usefulness of electron microscopy using medial rectus muscle in the diagnosis of adult patients with a slowly progressive course of mild skeletal weakness and CPEO.
Mitochondrial disease
External ophthalmoplegia
Muscle weakness
Kearns–Sayre syndrome
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We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of mitochondrial myopathies, a group of disorders defined either by biochemical abnormalities of mitochondria or by morphologic changes causing a ragged red appearance of the muscle fibers histochemically. We performed genomic Southern blot analysis of muscle mitochondrial DNA from 123 patients with different mitochondrial myopathies or encephalomyopathies. Deletions were found in the mitochondrial DNA of 32 patients, all of whom had progressive external ophthalmoplegia. Some patients had only ocular myopathy, whereas others had Kearns—Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. The deletions ranged in size from 1.3 to 7.6 kilobases and were mapped to different sites in the mitochondrial DNA, but an identical 4.9-kilobase deletion was found in the same location in 11 patients. Biochemical analysis showed decreased activities of NADH dehydrogenase, rotenone-sensitive NADH–cytochrome c reductase, succinate–cytochrome c reductase, and cytochrome c oxidase, four enzymes of the mitochondrial respiratory chain containing subunits encoded by mitochondrial DNA. We conclude that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function. However, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined. (N Engl J Med 1989; 320:1293–9.)
Kearns–Sayre syndrome
External ophthalmoplegia
Mitochondrial Encephalomyopathies
Mitochondrial encephalomyopathy
Mitochondrial respiratory chain
Southern blot
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