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儿童小脑萎缩的鉴别诊断

Differential diagnosis of cerebellar atrophy in childhood.

作者信息

Poretti Andrea, Wolf Nicole I, Boltshauser Eugen

机构信息

Department of Paediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

出版信息

Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14.

Abstract

Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, postnatally acquired CA, and unilateral CA. We also include a list of disorders with ataxia as symptom, but no evidence of CA on imaging. These checklists may be helpful in the evaluation of differential diagnosis and planning of additional investigations. However, the complete constellation of clinical (including history and neurological examination), imaging, and other information have to be considered. On the basis of a single study distinction between prenatal onset atrophy, postnatal onset atrophy, and cerebellar hypoplasia is not always possible. Apart from rare exceptions, neuroimaging findings of CA are nonspecific. A pattern-recognition approach is suggested, considering isolated (pure) CA, CA and hypomyelination, CA and progressive white matter abnormalities, CA and basal ganglia involvement, and cerebellar cortex hyperintensity.

摘要

从小脑萎缩(CA)的影像学表现出发,我们为不同类型的CA提供了检查清单:遗传性CA、出生后获得性CA和单侧CA。我们还列出了以共济失调为症状但影像学上无CA证据的疾病清单。这些检查清单可能有助于鉴别诊断评估和额外检查的规划。然而,必须综合考虑完整的临床(包括病史和神经学检查)、影像学及其他信息。基于单一研究,并不总是能够区分产前起病的萎缩、产后起病的萎缩和小脑发育不全。除了罕见的例外情况,CA的神经影像学表现是非特异性的。建议采用模式识别方法,考虑孤立性(单纯性)CA、CA与髓鞘形成低下、CA与进行性白质异常、CA与基底节受累以及小脑皮质高信号。

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