An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

Vondracek P; Hermanova M; Vodickova K; Fajkusova L; Blakely EL; He L; Turnbull DM; Taylor RW; Tajsharghi H

首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

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An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

机译：在脑部MRI上，具有正常CK血清水平，外部眼肌麻痹和白质改变的先天性肌营养不良症的罕见病例。

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We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy-typical histological findings in CMD. Immunostaining showed normal expression of merosin, alpha and beta-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants.

机译：我们报告了一名13岁女孩的散发性先天性肌营养不良（CMD）病例，其早期表现为肌肉无力和肌张力低下，严重挛缩，延髓综合征，进行性眼外肌麻痹和磁共振成像（MRI）上的白质改变大脑，但没有精神缺陷。血清肌酸激酶（CK）水平正常。肌肉活检显示营养不良，表现出明显的炎症浸润，模仿了CMD中的炎症性肌病-典型的组织学发现。免疫染色显示黑素，α和β-dystroglycans正常表达。 calpain3，dysferlin和SEPN1基因的突变分析为阴性。电子显微镜显示位于肌膜下的线粒体异常扩大。呼吸链酶活性的测定未发现任何生化缺陷，并且线粒体遗传研究（包括整个线粒体基因组的测序）均不显着。我们患者的表型表现非常不寻常，与其他CMD变体有很大不同。

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《European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society》 |2007年第6期|共4页
作者
Vondracek P; Hermanova M; Vodickova K; Fajkusova L; Blakely EL; He L; Turnbull DM; Taylor RW; Tajsharghi H;
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正文语种 eng
中图分类儿科学;
关键词
Magnetic Resonance Imaging; white matter; Creatine kinase measurement; Muscular Dystrophies; 磁共振成像;

机译：Magnetic Resonance Imaging;white matter;Creatine kinase measurement;Muscular Dystrophies;磁共振成像;

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1. An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. [J] . Vondracek P, Hermanova M, Vodickova K, European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society . 2007,第6期

机译：在脑部MRI上，具有正常CK血清水平，外部眼肌麻痹和白质改变的先天性肌营养不良症的罕见病例。
2. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI. [J] . Murakami T, Hayashi YK, Ogawa M, Brain & Development . 2009,第6期

机译：在正常的脑部MRI情况下，新型POMT2突变会导致轻度先天性肌营养不良。
3. with myotonic muscular dystrophy type 1 but has not been evaluated in other myopathies. Methods: We measured total and free serum testosterone levels in 59 men with myotonic muscular dystrophy type 1 (N = 12), facioscapulohumeral muscular dystrophy (N = 11), dystrophinopathy (N = 12), metabolic myopathy (N = 7), and inclusion body myositis (N = 17) and compared these with the normal reference interval. Results: Thirty-two of the 59 (54%) participants had low total testosterone, 23 (39%) had low [J] . Anti-cancer agents in medicinal chemistry . 2009,第7期

机译：患有1型强直性肌营养不良症，但尚未在其他肌病中进行评估。方法：我们测量了59名患有强直性肌营养不良症1型（N = 12），面肩肱肱肌营养不良症（N = 11），肌营养不良症（N = 12），代谢性肌病（N = 7）和包涵体肌炎（N = 17），并将其与正常参考间隔进行比较。结果：59名参与者中的32名（54％）睾丸激素水平低，23名（39％）睾丸激素水平低
4. An efficient approach for the detection of White Matter, Gray Matter, and cerebrospinal fluid from MR images of the brain using an advanced multilevel thresholding [C] . Sandhya G., Giri Babu Kande, Satya Savithri T. International Conference on Advances in Electrical, Electronics, Information, Communication and Bio-Informatics . 2017

机译：使用高级多级阈值检测从大脑的MR图像中检测白质，灰质和脑脊液的有效方法
5. Quantifying brain white matter structural changes in normal aging using fractal dimension. [D] . Zhang, Luduan. 2006

机译：使用分形维数量化正常衰老中脑白质的结构变化。
6. Changes within the normal cerebral white matter of multiple sclerosis patients during acute attacks and during high-dose cortisone therapy assessed by means of quantitative MRI. [O] . M Brainin, A Neuhold, T Reisner, 1989

机译：在多发性硬化症患者的正常脑白质中在急性发作期间和大剂量可的松治疗期间的变化通过定量MRI评估。
7. Serum Enzyme Activities in Progressive Muscular Dystrophies： Part 2： Serial Changes of Serum GOT， GPT， LDH and CK Activities in Congenital Muscular Dystrophy [O] . 池中晴美, Harumi IKENAKA 1992

机译：进行性肌营养不良症的血清酶活性：第2部分：先天性肌营养不良症的血清GOT，GPT，LDH和CK活性的系列变化

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

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