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与出生相关的手足徐动症和核黄疸综合征。

Birth-related syndromes of athetosis and kernicterus.

作者信息

Przekop Allison, Sanger Terence D

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.

出版信息

Handb Clin Neurol. 2011;100:387-95. doi: 10.1016/B978-0-444-52014-2.00030-6.

DOI:10.1016/B978-0-444-52014-2.00030-6
PMID:21496597
Abstract

"Athetosis," from the Greek athetos, meaning "without fixed position," is a movement disorder first described by Hammond in 1871. The term described slow, irregular continual movements of the distal extremities. In 1983, Foley defined the athetoid syndrome as "a nonprogressive but evolving disorder due to damage to the basal ganglia of the full-term brain … [with] impairment of postural reflexes, arrhythmical involuntary movements, and dysarthria, [but] sparing … sensation, ocular movements and … intelligence." A decade later, "athetoid syndrome" was replaced by "dyskinetic cerebral palsy." Injury to basal ganglia by various mechanisms, including asphyxia, trauma, perinatal strokes, and kernicterus, is known to cause birth-related athetosis. Kernicterus originally described the neuropathology of bilirubin-induced brain injury, where the deep nuclei of the brain stain yellow. Kernicterus now describes the clinical features of chronic bilirubin encephalopathy, which include an extrapyramidal movement disorder, sensorineural hearing loss, impaired upward gaze, and dental enamel dysplasia. Aggressive treatment of perinatal hyperbilirubinemia has led to a decline in kernicterus so that, today, it is a rare cause of dyskinetic cerebral palsy. In this chapter, we provide a historic overview of athetosis and its formerly common cause, kernicterus. We relate earlier terminology to more recent definitions of impairments in dyskinetic cerebral palsy, including dystonia, chorea, and choreoathetosis.

摘要

“手足徐动症”一词源于希腊语“athetos”,意为“无固定位置”,是一种运动障碍,于1871年由哈蒙德首次描述。该术语描述了远端肢体缓慢、不规则的持续运动。1983年,福利将手足徐动症综合征定义为“一种由于足月脑基底神经节受损而导致的非进行性但不断发展的疾病……[伴有]姿势反射受损、节律性不自主运动和构音障碍,[但]感觉、眼球运动和……智力不受影响”。十年后,“手足徐动症综合征”被“运动障碍型脑性瘫痪”所取代。已知包括窒息、创伤、围产期中风和核黄疸在内的各种机制导致的基底神经节损伤会引起与出生相关的手足徐动症。核黄疸最初描述的是胆红素诱导的脑损伤的神经病理学,其中脑深部核团染成黄色。现在,核黄疸描述的是慢性胆红素脑病的临床特征,包括锥体外系运动障碍、感音神经性听力损失、向上凝视受损和牙釉质发育不良。对围产期高胆红素血症的积极治疗导致核黄疸发病率下降,因此,如今它是运动障碍型脑性瘫痪的罕见病因。在本章中,我们对手足徐动症及其以前常见的病因核黄疸进行了历史概述。我们将早期术语与运动障碍型脑性瘫痪中损伤的最新定义联系起来,包括肌张力障碍、舞蹈症和舞蹈手足徐动症。

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