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同卵双胞胎中伴有苍白球色素沉着和脂褐质沉积的全身性婴儿神经轴索性营养不良(作者译)

[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].

作者信息

Peiffer J, Brunner N, Landolt R F, Müller G, Schlote W

出版信息

Neuropadiatrie. 1976 Aug;7(3):327-50. doi: 10.1055/s-0028-1091634.

DOI:10.1055/s-0028-1091634
PMID:183173
Abstract

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).

摘要

同卵男性双胞胎在两岁时开始出现进行性智力衰退、肌张力减退、痉挛、视神经萎缩和癫痫发作,分别于6岁半和7岁半时死亡。两名患者均表现为全身性神经轴索性营养不良(NAD),其特征为苍白球出现大量球形小体、铁阳性色素和类脂质沉积。NAD可分为无苍白球色素沉着的全身性形式(Seitelberger婴儿型)、Rozdilsky青少年型、有色素沉着的全身性形式(此处描述的病例)以及局限性形式(婴儿型、晚婴儿型、青少年型=经典的Hallervorden-Spatz病、成人型)。

相似文献

1
[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].同卵双胞胎中伴有苍白球色素沉着和脂褐质沉积的全身性婴儿神经轴索性营养不良(作者译)
Neuropadiatrie. 1976 Aug;7(3):327-50. doi: 10.1055/s-0028-1091634.
2
[The Hallervorden-Spatz Disease].
Nervenarzt. 1966 Nov;37(11):482-93.
3
[Hallervorden-Spatz disease with Lewy bodies].
Rev Neurol (Paris). 1985;141(12):806-9.
4
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology.哈勒沃登-施帕茨病与婴儿神经轴索性营养不良。超微结构观察、解剖病理学与疾病分类学。
J Neurol Sci. 1973 Sep;20(1):7-23. doi: 10.1016/0022-510x(73)90114-7.
5
[Infantile form of Hallervorden-Spatz disease (author's transl)].婴儿型哈勒沃登-施帕茨病(作者译)
Acta Neurol Belg. 1975;75(6):257-66.
6
Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study.
Clin Neuropathol. 1990 May-Jun;9(3):136-42.
7
Neuroaxonal dystrophy with dystonia and pallidal involvement.伴有肌张力障碍和苍白球受累的神经轴索性营养不良
Neuropediatrics. 1999 Jun;30(3):151-4. doi: 10.1055/s-2007-973482.
8
[Case of parkinsonism with degeneration of the outer globus pallidus--relationship to progressive atrophy of globus pallidus and Hallervorden-Spatz disease].
Rinsho Shinkeigaku. 1972 Jul;12(7):339-45.
9
[Neuroaxonal dystrophies].
Verh Dtsch Ges Pathol. 1968;52:92-126.
10
Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis.
Childs Nerv Syst. 1996 Mar;12(3):155-60. doi: 10.1007/BF00266820.

引用本文的文献

1
Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy.通过直肠和皮肤活检的电子显微镜检查诊断青少年-成人型神经轴索性营养不良
J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):818-21. doi: 10.1136/jnnp.50.6.818.
2
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.全身性巨大轴索神经病:一例无卷发患者中神经元、内皮细胞、神经胶质细胞和施万细胞的丝状形成疾病
Acta Neuropathol. 1977 Nov 28;40(3):213-8. doi: 10.1007/BF00691956.