CEREBRAL ABNORMALITIES IN CONGENITAL MYOTONIC-DYSTROPHY
CEREBRAL ABNORMALITIES IN CONGENITAL MYOTONIC-DYSTROPHY
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DOI：
10.1016/0887-8994(91)90102-q
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发表时间：
1991-01-01
影响因子：
3.8
通讯作者：
QUERO, J
中科院分区：
文献类型：
--
作者：
GARCIAALIX, A;CABANAS, F;QUERO, J
应用头颅超声对2所医院14例先天性强直性肌营养不良新生儿的脑结构进行了评价，并与临床及神经病理资料进行了对照。11名婴儿(78%)被诊断为脑室扩张。7名婴儿在新生儿期死亡；所有婴儿都有脑室扩张。在7名幸存者中，4名患者的脑室扩张基本保持不变。在1家医院出生的5例脑室扩张婴儿的超声扫描中，4例有大脑半球间裂隙扩大。先天性强直性肌营养不良患者中有10例(71%)出现巨头畸形，其中8例表现为脑室扩张。无一例有颅内压升高的临床证据。4例脑组织病理检查均无脑室梗阻。组织学检查显示，每个患者都有轻微的神经元迁移障碍。在我们的患者中，巨头畸形与超声和神经病理结果相结合，表明这些异常可能起源于外部脑积水。
The brain structure of 14 infants born with congenital myotonic dystrophy at 2 hospitals was evaluated by cranial ultrasonography, and the findings were correlated with clinical and neuropathologic data. Ventricular dilation was diagnosed in 11 infants (78%). Seven infants died during the neonatal period; all had ventricular dilation. Of the 7 survivors, 4 had ventricular dilation which remained essentially static. In the ultrasound scans of the 5 infants with ventricular dilation born at 1 hospital, 4 had widening of the interhemispheric fissure. Macrocephaly, a previously unrecognized finding in congenital myotonic dystrophy, was present in 10 infants (71%), 8 of whom presented with ventricular dilation. None had clinical evidence of increased intracranial pressure. There was no ventricular obstruction in the 4 brains examined pathologically. Histologic examination revealed minor expression of neuronal migrational disturbances in each patient. Macrocephaly together with the ultrasonographic and neuropathologic findings in our patients suggest that these abnormalities may originate in an external hydrocephalus.