GAUCHER DISEASE - NORRBOTTNIAN TYPE - NEURODEVELOPMENTAL, NEUROLOGICAL, AND NEUROPHYSIOLOGICAL ASPECTS
GAUCHER DISEASE - NORRBOTTNIAN TYPE - NEURODEVELOPMENTAL, NEUROLOGICAL, AND NEUROPHYSIOLOGICAL ASPECTS
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DOI：
10.1007/bf00442672
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发表时间：
1983-01-01
影响因子：
3.6
通讯作者：
ERIKSON, A
中科院分区：
文献类型：
--
作者：
BLOM, S;ERIKSON, A
在22例患者中研究了Norrbottnian型戈谢病（III型）的神经发育、神经学和神经生理学方面。这些发现与临床分期和患者是否接受过脾切除术有关。神经系统异常主要发生在脾切除后10岁以上的患者中。脑电图结果不能诊断疾病，但变化在晚期和脾切除患者中更常见。 神经系统和神经生理学特征的发展模式表明，脾切除术后CNS糖基神经酰胺沉积增加，有利于对手术的限制态度。
Neurodevelopmental, neurological and neurophysiological aspects of the Norrbottnian type of Gaucher disease (type III) were studied in 22 patients. The findings were related to clinical stages and to whether or not the patients had been splenectomized. Neurological abnormalities were mainly found in splenectomized patients who had passed the 1st decade of life. EEG findings were not diagnostic for the disease but changes were more common in the advanced stages and among splenectomized patients. Patterns of development of neurological and neurophysiological features indicate that CNS deposition of glycosylceramide increases after splenectomy, and favor a restrictive attitude towards surgery.