La Presse medicale Pub Date : 2019-11-14 DOI:10.32388/547742
M. Tardieu
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引用次数: 0

摘要

Rett综合征是一种脑部疾病,几乎只发生在女孩身上。这种情况最常见的形式被称为经典Rett综合征。出生后,患有典型Rett综合征的女孩在出现语言、交流、学习、协调和其他大脑功能的严重问题之前,会有6到18个月的明显正常发育。在童年早期,受影响的女孩失去了有目的地使用她们的手,并开始重复握手、洗手或鼓掌的动作。他们往往比其他孩子长得慢,大约四分之三的孩子头小(小头畸形)。可能出现的其他体征和症状包括呼吸异常、吐痰或流口水、不寻常的眼球运动(如强烈凝视或过度眨眼)、手脚发冷、易怒、睡眠障碍、癫痫发作和脊柱侧弯异常(脊柱侧凸)。
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[Rett syndrome].
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).
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