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韦尼克-霍夫曼病中的小脑发育不全

Cerebellar hypoplasia in Werdnig-Hoffmann disease.

作者信息

Weinberg A G, Kirkpatrick J B

出版信息

Dev Med Child Neurol. 1975 Aug;17(4):511-6. doi: 10.1111/j.1469-8749.1975.tb03503.x.

DOI:10.1111/j.1469-8749.1975.tb03503.x
PMID:1158057
Abstract

The case of an infant with Werding-Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy there was severe cerebellar hypoplasia, associated with degenerative changes in the brain-stem nuclei. This case supports the concept that cerebellar hypoplasia may develop as a manifestation of the neuronal abiotrophy of Werdnig-Hoffmann disease. A similarity has been noted between the cerebellar lesion found in the child reported here and that produced by viral infection in experimental animals.

摘要

报告了一例患有韦尔登-霍夫曼病的婴儿病例,该婴儿在4.5日龄时死亡。尸检发现有严重的小脑发育不全,并伴有脑干核的退行性改变。该病例支持小脑发育不全可能作为韦尔登-霍夫曼病神经元性生命活力缺失的一种表现而发生的观点。已注意到这里报告的儿童小脑病变与实验动物病毒感染所产生的病变之间存在相似性。

相似文献

1
Cerebellar hypoplasia in Werdnig-Hoffmann disease.韦尼克-霍夫曼病中的小脑发育不全
Dev Med Child Neurol. 1975 Aug;17(4):511-6. doi: 10.1111/j.1469-8749.1975.tb03503.x.
2
Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.肌萎缩性小脑发育不全:婴儿脊髓萎缩的一种特殊形式。
Acta Neuropathol. 1984;63(4):282-6. doi: 10.1007/BF00687334.
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Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.婴儿前角细胞疾病伴脑桥小脑发育不全
J Neurol Neurosurg Psychiatry. 1977 Apr;40(4):370-8. doi: 10.1136/jnnp.40.4.370.
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Ultrastructure of chromatolytic motoneurons in a case of Werdnig-Hoffmann disease.韦尼克-霍夫曼病一例中溶解体运动神经元的超微结构
Neurology. 1970 Apr;20(4):381.
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[Progressive muscular spinal atrophy of Werdnig-Hoffmann].[韦尼克-霍夫曼进行性脊髓性肌萎缩症]
Folia Hered Pathol (Milano). 1968:113-26.
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Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.呼吸窘迫作为韦尼克-霍夫曼病的初始表现
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Ultrastructure of muscle in Werdnig-Hoffmann disease.
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Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.急性韦尔尼克-霍夫曼病:急性婴儿型脊髓性肌萎缩症。
Arch Dis Child. 1973 Jun;48(6):425-30. doi: 10.1136/adc.48.6.425.
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[Infantile progressive spinal muscular atrophy. Werdnig-Hoffmann disease].[婴儿进行性脊髓性肌萎缩症。韦尼克-霍夫曼病]
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Fetal movements and Werdnig-Hoffmann disease.胎儿运动与韦尼克-霍夫曼病
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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.脑桥小脑发育不全 1 型:EXOSC3 突变的临床特征及意义。
Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.
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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.桥脑小脑发育不全的分类、诊断和潜在机制。
Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50.
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Pontocerebellar hypoplasia type 2: a neuropathological update.2型脑桥小脑发育不全:神经病理学最新进展
Acta Neuropathol. 2007 Oct;114(4):373-86. doi: 10.1007/s00401-007-0263-0. Epub 2007 Jul 20.
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Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.伴有橄榄体脑桥小脑发育不全和小脑过小的致命性婴儿脑病。三例同胞病例报告。
Acta Neuropathol. 1993;85(4):394-9. doi: 10.1007/BF00334450.
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Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).婴儿小脑性视神经萎缩。伴有水肿、高度节律失调和视神经萎缩的进行性脑病综合征(PEHO综合征)的神经病理学
Acta Neuropathol. 1993;85(3):241-7. doi: 10.1007/BF00227717.
7
Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.肌萎缩性小脑发育不全:婴儿脊髓萎缩的一种特殊形式。
Acta Neuropathol. 1984;63(4):282-6. doi: 10.1007/BF00687334.
8
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
Acta Neuropathol. 1985;65(3-4):270-80. doi: 10.1007/BF00687008.
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Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.伴有肌肉萎缩、关节挛缩和产前发生的肺发育不全的橄榄体脑桥小脑萎缩
Virchows Arch A Pathol Anat Histopathol. 1987;410(4):339-45. doi: 10.1007/BF00711290.
10
Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.婴儿前角细胞疾病伴脑桥小脑发育不全
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