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一名线粒体肌病患者出现慢性肠道假性梗阻和眼肌麻痹。

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy.

作者信息

Cervera R, Bruix J, Bayes A, Blesa R, Illa I, Coll J, Garcia-Puges A M

机构信息

Gastroenterology Service, Hospital Clínic i Provincial, Hospital de Sant Pau, Barcelona, Spain.

出版信息

Gut. 1988 Apr;29(4):544-7. doi: 10.1136/gut.29.4.544.

DOI:10.1136/gut.29.4.544
PMID:3371723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1433523/
Abstract

A 38 year old woman having chronic intestinal pseudoobstruction associated with mitochondrial myopathy is reported. The clinical and radiographic features suggested the diagnosis of chronic intestinal pseudoobstruction. Muscular atrophy and ophthalmoplegia led to muscle biopsy, which disclosed accumulation of normal and abnormal mitochondria ('ragged red fibres'), characteristic of mitochondrial myopathy.

摘要

报告了一名38岁患有与线粒体肌病相关的慢性肠假性梗阻的女性。临床和影像学特征提示慢性肠假性梗阻的诊断。肌肉萎缩和眼肌麻痹导致进行肌肉活检，结果显示存在正常和异常线粒体的聚集（“破碎红纤维”），这是线粒体肌病的特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/903dff782931/gut00230-0152-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/92b3c2a74524/gut00230-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/65d2cec14c44/gut00230-0151-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/903dff782931/gut00230-0152-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/92b3c2a74524/gut00230-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/65d2cec14c44/gut00230-0151-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b395/1433523/903dff782931/gut00230-0152-a.jpg

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本文引用的文献

1
Chronic idiopathic intestinal pseudo-obstruction. A surgical approach.慢性特发性肠道假性梗阻。一种手术治疗方法。
Ann Surg. 1980 Dec;192(6):752-61. doi: 10.1097/00000658-198012000-00011.
2
Chronic intestinal pseudo-obstruction. A report of 27 cases and review of the literature.慢性肠道假性梗阻。27例报告及文献复习
Medicine (Baltimore). 1981 May;60(3):173-96.
3
Pseudo-obstruction and other obstructive disorders.假性梗阻及其他梗阻性疾病。
与线粒体肌病相关的家族性内脏肌病
Gut. 1993 Feb;34(2):279-83. doi: 10.1136/gut.34.2.279.
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Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.线粒体脑肌病：单一家系中的可变临床表现。
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Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder.伴有肌病和眼肌麻痹的慢性肠道假性梗阻。线粒体疾病的肌肉生化研究。
Dig Dis Sci. 1992 Mar;37(3):456-63. doi: 10.1007/BF01307743.
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Gastroenterology. 1983 Feb;84(2):346-53.
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Dermatomyositis and its manifestations in the gastrointestinal tract.皮肌炎及其在胃肠道的表现。
Am J Gastroenterol. 1970 Feb;53(2):141-6.
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Esophageal and colon changes in myotonia dystrophica.强直性肌营养不良症的食管和结肠改变
Gastroenterology. 1972 Jul;63(1):134-9.
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Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.伴有“破碎红”纤维的眼颅体神经肌肉疾病
Arch Neurol. 1972 Mar;26(3):193-211. doi: 10.1001/archneur.1972.00490090019001.
8
A new mitochondrial myopathy in a patient with salt craving.一名有嗜盐症状患者的新型线粒体肌病。
Arch Neurol. 1970 Mar;22(3):259-69. doi: 10.1001/archneur.1970.00480210069009.
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Mitochondrial myopathies.线粒体肌病
Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602.
10
A familial visceral myopathy.一种家族性内脏肌病。
Ann Intern Med. 1978 Nov;89(5 Pt 1):600-6. doi: 10.7326/0003-4819-89-5-600.