1.Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody.
Min Soo KO ; Min Soo KIM ; Jee Hyun KWON ; Wook Joo KIM ; Eun Mi LEE ; Sun Young KIM ; Dae Seong KIM
Journal of the Korean Neurological Association 2012;30(3):214-217
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.
Acetylcholine
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Kearns-Sayre Syndrome
;
Mitochondrial Myopathies
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Myasthenia Gravis
;
Ophthalmoplegia
;
Ophthalmoplegia, Chronic Progressive External
2.Optic Neuropathy Associated with Mitochondrial tRNA(Leu(UUR)) A->G(3243) Mutation.
Seong Joon KIM ; Jeong Min HWANG ; Hye Won PARK ; Seong Ho PARK ; Han Bo LEE
Journal of the Korean Ophthalmological Society 1996;37(7):1241-1246
Mitochondrial tRNA(Leu(UUR)) A->G(3243) mutation accounts for 80% of all patients with MELAS(mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes), diabetes mellitus with deafness and progressive external ophthalmoplegia. Optic neuropathy has rarely been reported to be associated with the mutation. We found optic neuropathy in two patients with the mutation. To our knowledge, this is the first case report of optic neuropathy associated with the mutation in Korea.
Acidosis, Lactic
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Deafness
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Diabetes Mellitus
;
Humans
;
Korea
;
Ophthalmoplegia, Chronic Progressive External
;
Optic Nerve Diseases*
3.A Case of Oculopharyngeal Muscular Dystrophy.
Min Ho KIM ; Sung Kun CHUNG ; Chan PARK
Journal of the Korean Ophthalmological Society 1991;32(12):1153-1158
Oculopharyngeal muscular dystrophy, one of the variants of chronic progressive external ophthalmoplegia, is a disorder characterized by progressive bilateral ptosis, immobility of the eyes and dysphagia. We have experienced a 46-year-old woman complaining of bilateral ptosis, mild dysphagia and immobility of the eyes. Oculopharyngeal muscular dystrophy was confirmed by clinical, electromyographic and histopathologic examination. Therefore, we report a case of oculopharyngeal muscular dystrophy with review of literatures.
Deglutition Disorders
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Female
;
Humans
;
Middle Aged
;
Muscular Dystrophy, Oculopharyngeal*
;
Ophthalmoplegia, Chronic Progressive External
4.Clinical Phenotypic Patterns of Ophthalmoplegia Plus with Ragged Red Fiber.
Kwang Woo LEE ; Sang Yun KIM ; Joo Yong KIM ; Nam Soo LEE ; Seung Hyun KIM ; Sang Bok LEE ; Ho Jin MYUNG ; Je Geun CHI
Journal of the Korean Neurological Association 1992;10(2):224-231
Chronic progressive ophthalmoplegia(CPEO) is a vague clinical entity, which needs further understanding and there is still intense controversy about the classification on the Syndrome of Progressive External Ophthalmoplegia. In our country two cases of similar disease were reported with the title of oculocraniosomatic disease and CPEO with ragged red fiber. Authors experienced a 39 year-old woman with typical Kearns-Sayre syndrome(KSS) and a 44 year-old man with ophthalmoplegia plus syndrome. The case with Kearns-Sayre syndrome had an invariable triad of 1) chronic progressive external ophthalmoplegia and onset before 20 years of age, 2) retinal pigmentary degeneration of salt & pepper pattern and 3)mitochondrial abnormalities with additional findings of increased cerebrospinal fluid protein and cerebellar ataxia rhe other case with ophthalmoplegia plus with ragged red fiber syndrome had similar symptomatology to Kearns-Sayre syndrome except for typical retinal pigmentary degeneration. Both cases showed electromyographic myopathic findings and typical histopathologic features as ragged red fiber and paracrystalline mitochondrial aggregations. Therefore authors would say that these clinical different phenotypes of mitochondrial abnormality should be understood in detail by the biochemical investigations.
Adult
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Cerebellar Ataxia
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Cerebrospinal Fluid
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Classification
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Female
;
Humans
;
Kearns-Sayre Syndrome
;
Ophthalmoplegia*
;
Ophthalmoplegia, Chronic Progressive External
;
Phenotype
;
Retinaldehyde
5.Genetics of Mitochondrial Myopathies.
Journal of Genetic Medicine 2013;10(1):20-26
Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with tissues of high energy demand such as muscle and nerve. Mitochondrial myopathies occur not only by mutations in mitochondrial genome, but also by defects in nuclear genes or secondarily by toxic insult on mitochondrial replication. Currently curative treatment modality does not exist and symptomatic treatment remains mainstay. Administration of L-arginine holds great promise according to the recent reports. Advances in mitochondrial RNA import might enable a new therapeutic strategy.
Arginine
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Genome
;
Genome, Mitochondrial
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MELAS Syndrome
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MERRF Syndrome
;
Mitochondria
;
Mitochondrial Myopathies
;
Muscles
;
Ophthalmoplegia, Chronic Progressive External
;
Organelles
;
RNA
6.A Case of Chronic Progressive External Ophthalmoplegia.
Won Kyu SHIN ; Byung Su CHOI ; Hanho SHIN
Journal of the Korean Ophthalmological Society 1995;36(1):120-124
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.
Blepharoptosis
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Endocrine Glands
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Female
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Heart
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Humans
;
Inclusion Bodies
;
Microscopy, Electron
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Middle Aged
;
Mitochondria
;
Ophthalmoplegia, Chronic Progressive External*
;
Paralysis
;
Retina
;
Skeleton
7.Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?.
Sung Sang YOON ; Mee Suk LEE ; Man Ho KIM ; Te Gyu LEE ; Dae Il CHANG ; Kyung Cheon CHUNG
Journal of the Korean Neurological Association 2003;21(3):311-314
We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.
Humans
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Intestinal Pseudo-Obstruction*
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MERRF Syndrome
;
Mitochondrial Diseases*
;
Ophthalmoplegia, Chronic Progressive External
;
Point Mutation*
;
Urinary Bladder, Neurogenic*
8.A Case of Kearns-Sayre Syudrome.
Hee Chang YANG ; Woong Chul CHOI
Journal of the Korean Ophthalmological Society 1999;40(3):864-868
Kearns-Sayer syndrome, a rare mitochondrial disorder, is composed of chronic progressive external ophthalmoplegia, atypical retinal pigmentation and complete heart block, and also causes numerous neurologic or endocrinologic symptoms. On muscle biopsy, a "ragged red fiber" was seen with Gomori trichrome stain, On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. We report a case of Kearns-Sayer syndrome we have experienced.
Biopsy
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Diagnosis
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Heart Block
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Microscopy, Electron
;
Mitochondria
;
Mitochondrial Diseases
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Mitochondrial Myopathies
;
Ophthalmoplegia, Chronic Progressive External
;
Pigmentation
;
Retinaldehyde
9.Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension.
Laurenz WEITGASSER ; Gottfried WECHSELBERGER ; Florian ENSAT ; Rene KAPLAN ; Michaela HLADIK
Archives of Plastic Surgery 2015;42(2):214-217
Blepharoptosis is a common indication for surgery in plastic surgery units, yet its possible underlying pathology frequently remains unidentified. A 52-year-old man with a 20-year history of progressive bilateral ptosis (right>left) presented with recurrent ptosis of both eyes; he had undergone an operation on the levator aponeurosis 12 years prior. Due to the suspicion of an underlying disease, he was evaluated further. Chronic progressive external ophthalmoplegia in transition to the more severe syndromic variant Kearns-Sayre syndrome, a mitochondrial disorder causing myopathy, was diagnosed. The patient was treated with coenzyme Q10, and he underwent ptosis surgery on both eyes. This case illustrates a potentially multi-systemic disease that was diagnosed by a further evaluation of a common symptom, in this case worsening blepharoptosis. Awareness of myopathic symptoms is necessary to prevent overlooking serious yet improvable conditions.
Blepharoplasty
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Blepharoptosis*
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Humans
;
Kearns-Sayre Syndrome*
;
Middle Aged
;
Mitochondrial Diseases
;
Muscular Diseases
;
Ophthalmoplegia, Chronic Progressive External
;
Pathology
;
Surgery, Plastic
10.A Case of the Oculopharyngeal Muscular Dystrophy.
Jong Bok LEE ; Ki Chang KIM ; Sang Gyun BUM
Journal of the Korean Ophthalmological Society 1987;28(2):489-494
The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most prominent findings. It is a systemic myopathy which affects all voluntary muscles and appears to spare smooth and cardiac muscle. The authors experienced a case of the oculopharyngeal muscular dystrophy which showed characteristic signs and symptoms such as symmetric ptosis, dysphagia, and progressive external ophthalmoplegia, and the literature were reviewed.
Blepharoptosis
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Deglutition Disorders
;
Leg
;
Muscle, Skeletal
;
Muscular Diseases
;
Muscular Dystrophy, Oculopharyngeal*
;
Myocardium
;
Ophthalmoplegia, Chronic Progressive External
;
Penetrance