Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers'--a case report.
نویسندگان
چکیده
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.
منابع مشابه
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI). This is the first mutation at position 44 in the variable loop (V loop) of any mitochondrial tRNA. The muscle biopsy revealed 10% ragged-red/ragged-blue fibers and ...
متن کاملChronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient.
PURPOSE Mitochondrial T9957C mutations have been reported in patients with nonarteritic ischemic optic neuropathy and seizures and in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. However, thus far, this mutation has not been reported in patients with chronic progressive external ophthalmoplegia (CPEO). CASE REPORT Here we report a female patient with ...
متن کاملA novel mitochondrial tRNAVal T1658C mutation identified in a CPEO family
PURPOSE To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister. METHODS The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fib...
متن کاملMitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus
RATIONALE Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis...
متن کاملCurrent Perspectives of Mitochondrial Dysfunction and Associated Diseases
Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...
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عنوان ژورنال:
- Journal of Korean Medical Science
دوره 4 شماره
صفحات -
تاریخ انتشار 1989