Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody

External ophthalmoplegia and ptosis are common manifestations of mitochondrial cytopathy, such as chronic progressive external ophthalmoplegia (CPEO). However, these symptoms and signs may also be presenting features of myasthenia gravis (MG). There are a few reports of CPEO with elevated acetylcholine receptor antibody (AchR-Ab). We report a case of AD-type CPEO with elevated acetylcholine receptor binding antibody. We confirmed a mutation on the SLC25A4 gene by molecular analysis.

Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia / 대한소아신경학회지

PURPOSE: Chronic progressive external ophtahlmoplegia(CPEO) is a common phenotype of mitochondrial myopathy. CPEO has wide clinical spectrum with variable severity and can be divided into 3 groups; Kearns-Sayre syndrome, ophthalmoplegia plus and isolated CPEO. Single large-scale deletion, multiple deletions, point mutation of muscle mitochondrial DNA(mtDNA) and nuclear gene defect are associated with CPEO. We reviewed two cases of CPEO associated with the gene defect of mtDNA. METHODS: mtDNA was extracted from muscle biopsy tissue and blood leukocytes. We carried out polymerase chain reaction(PCR), restriction fragment length polymorphism (RFLP) assay and automated sequencing of the mtDNA. RESULTS: Case 1 presented with progressive external ophthalmoplegia, short stature, hypothyroidism and sensorineural hearing loss. A novel 7.6 kb-deletion was found in muscle and leukocyte mtDNA. Case 2 presented with isolated CPEO. A novel 6.2 kb- deletion was found in muscle mtDNA. CONCLUSION: We detected novel single large-scale deletion of mtDNA in 2 cases of CPEO with various clinical manifestations in our population. We have to investigate multi-organ involvement with regular follow-up for patients who present with progressive ophthalmoplegia

Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia / 대한소아신경학회지

PURPOSE: Chronic progressive external ophtahlmoplegia(CPEO) is a common phenotype of mitochondrial myopathy. CPEO has wide clinical spectrum with variable severity and can be divided into 3 groups; Kearns-Sayre syndrome, ophthalmoplegia plus and isolated CPEO. Single large-scale deletion, multiple deletions, point mutation of muscle mitochondrial DNA(mtDNA) and nuclear gene defect are associated with CPEO. We reviewed two cases of CPEO associated with the gene defect of mtDNA. METHODS: mtDNA was extracted from muscle biopsy tissue and blood leukocytes. We carried out polymerase chain reaction(PCR), restriction fragment length polymorphism (RFLP) assay and automated sequencing of the mtDNA. RESULTS: Case 1 presented with progressive external ophthalmoplegia, short stature, hypothyroidism and sensorineural hearing loss. A novel 7.6 kb-deletion was found in muscle and leukocyte mtDNA. Case 2 presented with isolated CPEO. A novel 6.2 kb- deletion was found in muscle mtDNA. CONCLUSION: We detected novel single large-scale deletion of mtDNA in 2 cases of CPEO with various clinical manifestations in our population. We have to investigate multi-organ involvement with regular follow-up for patients who present with progressive ophthalmoplegia

A Case of Chronic Progressive External Ophthalmoplegia

Chronic progressive external ophthalmoplegia(CPEO) is rare syndrome, which is characterized by slowly progressive blepharoptosis, paralysis of extraocular muscle and has involvement of other organs, particularly the retina, heart, endocrine gland, and bony skeleton. Histological examination of muscle showes characteristic ragged red fibers. Electron microscopy reveals a number of abnormal mitochondria which contain paracrystalline inclusion bodies. We experienced a 50-year-old female with CPEO, that was pathologically proven by electron microscopy and bilateral levator levator advancements were given for ptosis.

Clinical Manifestations of Mitochondrial Diseases

According to the recently published reports about mitochondrial diseasbl the clinical manifestations are more various than expected. There have been no clinical studies covering whole spectrum of mitochond7iral disease except a few case reports in our country. The authors performed this studies to understand the various clinical and laboratory findings of mitochondrial disease and the usefulness of current tools for the diagnosis of mitochondrial diseases. We reviewed retrospectively the clinical, laboratory and pathologic findings of mitochondrial disease. The diagnosis of mitochondrial disease was based on clinical manifestations, 'ragged-red fiber' in Gomori stainging, and/or abnormal mitochondrial morphologies on electron microscopy. Twenty one patients were diagnosed as mitochondrial disease. Their clinical diagnosis included 7 MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes); 3 MERRF (myoclonic epilepsy with ragged red fibers); 2 KSS (Kearns-Sayre syndrome); 7 CPEO (chronic progressive external ophthalmoplegia); and 2 mitochondrial myopathy. The usefulness of electrodiagnostic studies, such as EMG, NCV and FEG, were limited in some patients. The muscle biopsy showed ragged red fibers in 10 of 15 sampled examined. Eleven patients had abnormal serum lactic acid level. The authors found that the mitochondrial disease revealed broad clinical spectrum and clinically available diagnostic tests, such as serum lactate and light microscopic examination showed limited value. Therefore, to evaluate the mitochondrial dysfunction with systemic involvement may be desirable to depend on sensitive and specific methods including succinate dehydrogenase (SDH) staining, electron microscopy and biologic studies of mitochondrial DNA.

Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers': a case report

Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. We report a male patient who had a 20 year history of CPEO. Histological examination of left deltoid muscle showed characteristic ragged red fibers. Electron microscopy revealed a number of abnormal mitochondria which contain paracrystalline inclusion bodies.