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异染性脑白质营养不良:一例非典型病例。

Metachromatic leukodystrophy: on an atypical case.

作者信息

Zambrino C A, Balottin U, Minelli A, Rossi G, Lanzi G

机构信息

Divisione di Neuropsichiatria Infantile, IRCCS Fondazione Istituto Neurologico C. Mondino, Università di Pavia.

出版信息

Ital J Neurol Sci. 1992 Oct;13(7):617-9. doi: 10.1007/BF02233408.

DOI:10.1007/BF02233408
PMID:1428798
Abstract

We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein. These data are discussed in the light of the sural nerve biopsy findings, which revealed only slight impairment.

摘要

我们描述了一例非典型的青少年异染性脑白质营养不良病例。与该疾病常见情况不同,临床发病3年后运动传导速度仍在正常范围内。另一个不寻常的特征是脑脊液蛋白水平正常。结合腓肠神经活检结果对这些数据进行了讨论,活检结果仅显示轻微损伤。

相似文献

1
Metachromatic leukodystrophy: on an atypical case.异染性脑白质营养不良:一例非典型病例。
Ital J Neurol Sci. 1992 Oct;13(7):617-9. doi: 10.1007/BF02233408.
2
Multifocal slowing of nerve conduction in metachromatic leukodystrophy.异染性脑白质营养不良中的多灶性神经传导减慢。
Muscle Nerve. 2004 Apr;29(4):531-6. doi: 10.1002/mus.10569.
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[Metachromatic leukodystrophy: report of 2 cases with histochemistry of nerves and muscles].[异染性脑白质营养不良:2例神经与肌肉组织化学报告]
Arq Neuropsiquiatr. 1980 Sep;38(3):237-48. doi: 10.1590/s0004-282x1980000300003.
4
Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family.
Acta Neurol Scand. 2002 Jun;105(6):454-7. doi: 10.1034/j.1600-0404.2002.01257.x.
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Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.电生理研究检测到的周围神经病变作为婴儿期异染性脑白质营养不良的首发表现。
J Neurol Neurosurg Psychiatry. 1975 Feb;38(2):169-74. doi: 10.1136/jnnp.38.2.169.
6
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.青少年型异染性脑白质营养不良:生化与电生理研究
Neurology. 1979 Mar;29(3):346-3. doi: 10.1212/wnl.29.3.346.
7
Clinical aspects of globoid cell and metachromatic leukodystrophies.球状细胞和异染性脑白质营养不良的临床特征
Birth Defects Orig Artic Ser. 1971 Feb;7(1):103-12.
8
Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.青少年异染性脑白质营养不良。9例新病例的临床、生化及神经病理学研究。
Arch Neurol. 1980 Jan;37(1):42-6. doi: 10.1001/archneur.1980.00500500072011.
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Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy.青少年型与晚婴儿型异染性脑白质营养不良的临床病理差异
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[Observations on the course of juvenile metachromatic leukodystrophy].
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本文引用的文献

1
PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS).异染性脑白质营养不良(硫脂沉积症)中的周围神经传导
J Neurol Neurosurg Psychiatry. 1964 Apr;27(2):100-5.
2
Metachromatic leucodystrophy: review of 38 cases.异染性脑白质营养不良:38例病例回顾
Arch Dis Child. 1982 Mar;57(3):168-75. doi: 10.1136/adc.57.3.168.
3
An atypical case of infantile globoid cell leukodystrophy.一例非典型婴儿球形细胞脑白质营养不良症。
Neuropediatrics. 1983 May;14(2):110-2. doi: 10.1055/s-2008-1059565.
4
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report.迟发性异染性脑白质营养不良:一例报告所阐明的诊断问题
J Neurol. 1981;226(2):119-24. doi: 10.1007/BF00313439.
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An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
Acta Paediatr Scand. 1983 Nov;72(6):837-41. doi: 10.1111/j.1651-2227.1983.tb09826.x.
6
Sensory potentials in polyneuropathy.多发性神经病中的感觉电位
Brain. 1971;94(2):241-62. doi: 10.1093/brain/94.2.241.
7
Juvenile metachromatic leucodystrophy. Case report with clinical, histopathological, ultrastructural and biochemical observations.青少年异染性脑白质营养不良。附临床、组织病理学、超微结构及生化观察的病例报告。
Acta Neuropathol. 1973 Oct 11;26(2):93-106. doi: 10.1007/BF00697745.
8
A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.晚期成人异染性脑白质营养不良的一例临床前病例?仅表现为尿中脂质异常、酶缺乏和神经传导速度降低。
J Neurol Neurosurg Psychiatry. 1972 Jun;35(3):360-4. doi: 10.1136/jnnp.35.3.360.
9
Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.异染性脑白质营养不良的周围神经病:节段性脱髓鞘和再髓鞘形成以及硫脂细胞内分布的观察
J Neurol Neurosurg Psychiatry. 1967 Aug;30(4):311-8. doi: 10.1136/jnnp.30.4.311.
10
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.青少年型异染性脑白质营养不良:生化与电生理研究
Neurology. 1979 Mar;29(3):346-3. doi: 10.1212/wnl.29.3.346.