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伴有肌阵挛性癫痫、共济失调和下丘脑性不育的线粒体肌病和乳酸性血症：拉姆齐-亨特综合征的一种变异型？

Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?

作者信息

Fitzsimons R B, Clifton-Bligh P, Wolfenden W H

出版信息

J Neurol Neurosurg Psychiatry. 1981 Jan;44(1):79-82. doi: 10.1136/jnnp.44.1.79.

DOI:10.1136/jnnp.44.1.79
PMID:6782198
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC490823/
Abstract

A case of mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, cerebellar ataxia and high-tone hearing loss is presented. There was no ptosis or ophthalmoplegia. Endocrine investigations showed a defect in hypothalamic function which was a likely cause of infertility. The case is compared with previously reported examples of mitochondrial myopathy with myoclonic epilepsy, and contrasted with the Kearns-Sayre syndrome. It is concluded that mitochondrial myopathy, myoclonic epilepsy and ataxia may be distinguishing features of a specific familial disease, which on presentation may mimic the Ramsay-Hung syndrome.

摘要

本文报告了一例伴有肌阵挛性癫痫、小脑共济失调和高调听力丧失的线粒体肌病和乳酸性酸血症患者。该患者无眼睑下垂或眼肌麻痹。内分泌检查显示下丘脑功能缺陷，这可能是不孕的原因。将该病例与先前报道的伴有肌阵挛性癫痫的线粒体肌病病例进行了比较，并与卡恩斯-塞尔综合征进行了对比。得出的结论是，线粒体肌病、肌阵挛性癫痫和共济失调可能是一种特定家族性疾病的显著特征，在临床表现上可能类似拉姆齐-亨特综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9167/490823/64843a741fd8/jnnpsyc00057-0088-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9167/490823/fe54d304a279/jnnpsyc00057-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9167/490823/64843a741fd8/jnnpsyc00057-0088-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9167/490823/fe54d304a279/jnnpsyc00057-0088-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9167/490823/64843a741fd8/jnnpsyc00057-0088-b.jpg

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Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?伴有肌阵挛性癫痫、共济失调和下丘脑性不育的线粒体肌病和乳酸性血症：拉姆齐-亨特综合征的一种变异型？
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Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C.维生素K3和C治疗线粒体复合物III缺乏症患者出现的早发性小脑共济失调、肌阵挛和性腺功能减退
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本文引用的文献

1
Electrophysiological abnormalities in pigmentary degenerations of the retina. Assessment of value and basis.视网膜色素变性中的电生理异常。价值与依据评估。
Arch Ophthalmol. 1962 Sep;68:369-89. doi: 10.1001/archopht.1962.00960030373012.
2
Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.色素性视网膜炎、眼外肌麻痹和完全性心脏传导阻滞：一种不寻常的综合征，对两例中的一例进行了组织学研究。
AMA Arch Ophthalmol. 1958 Aug;60(2):280-9.
3
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.
"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.
“线粒体肌病”还是线粒体疾病？13例儿童的脑电图、视网膜电图、视觉诱发电位研究
J Neurol Neurosurg Psychiatry. 1982 Jul;45(7):627-32. doi: 10.1136/jnnp.45.7.627.
4
Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面
Eur J Pediatr. 1984 Feb;141(4):192-207. doi: 10.1007/BF00572761.
5
Biochemical studies in mitochondrial encephalomyopathy.线粒体脑肌病的生化研究
J Neurol Neurosurg Psychiatry. 1987 Oct;50(10):1348-52. doi: 10.1136/jnnp.50.10.1348.
6
Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); report of 3 cases.
Neuroradiology. 1987;29(4):393-7. doi: 10.1007/BF00348922.
7
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.
Ital J Neurol Sci. 1988 Feb;9(1):65-71. doi: 10.1007/BF02334410.
8
Mitochondrial myopathy: a genetic study of 71 cases.线粒体肌病：71例的遗传学研究
J Med Genet. 1988 Aug;25(8):528-35. doi: 10.1136/jmg.25.8.528.
9
Normal muscle mitochondrial function in Ramsay-Hunt syndrome.拉姆齐-亨特综合征中正常的肌肉线粒体功能
Ital J Neurol Sci. 1989 Feb;10(1):73-5. doi: 10.1007/BF02333875.
10
Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies.肌阵挛性小脑协同失调（拉姆齐·亨特综合征）：一种与线粒体脑肌病无关的病症。
J Neurol Neurosurg Psychiatry. 1989 Feb;52(2):262-5. doi: 10.1136/jnnp.52.2.262.
伴有破碎红纤维（线粒体异常）的肌阵挛性癫痫：疾病实体还是综合征？两例病例的光镜和电镜研究及文献复习
J Neurol Sci. 1980 Jul;47(1):117-33. doi: 10.1016/0022-510x(80)90031-3.
4
Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy.伴有慢性进行性眼外肌麻痹的海绵状脑病。酷似眼肌病的中枢性眼肌麻痹。
Neurology. 1966 Feb;16(2):161-9. doi: 10.1212/wnl.16.2_part_1.161.
5
Hypothyroid myopathy. Clinical, electromyographical, and ultrastructural observations.甲状腺功能减退性肌病。临床、肌电图及超微结构观察。
Arch Neurol. 1966 Jun;14(6):574-89. doi: 10.1001/archneur.1966.00470120006002.
6
A cytochrome-related inherited disorder of the nervous system and muscle.一种与细胞色素相关的神经系统和肌肉遗传性疾病。
Arch Neurol. 1970 Aug;23(2):103-12. doi: 10.1001/archneur.1970.00480260009002.
7
[Ovular myopathy with primary hypogonadism. Mitochondrial abnormalities in ultrastructural study].[伴有原发性性腺功能减退的卵母细胞肌病。超微结构研究中的线粒体异常]
Rev Neurol (Paris). 1973 May;128(5):365-77.
8
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
J Pediatr. 1973 Sep;83(3):426-31. doi: 10.1016/s0022-3476(73)80266-5.
9
"Ragged-red" fibers in Leigh's disease.Leigh病中的“破碎红”纤维。
Neurology. 1974 Jan;24(1):49-54. doi: 10.1212/wnl.24.1.49.
10
Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case.
J Neurol Sci. 1976 Feb;27(2):217-32. doi: 10.1016/0022-510x(76)90063-0.