Garcia-Alix A, Cabañas F, Morales C, Pellicer A, Echevarria J, Paisan L, Quero J
Department of Pediatrics, La Paz Children's Hospital, Madrid, Spain.
Pediatr Neurol. 1991 Jan-Feb;7(1):28-32. doi: 10.1016/0887-8994(91)90102-q.
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 which remained essentially static. In the ultrasound scans of the 5 infants with ventricular dilation. Of the 7 survivors, 4 had 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.
在两家医院对14例先天性肌强直性营养不良患儿的脑结构进行了头颅超声检查，并将检查结果与临床和神经病理学数据进行了关联分析。11例婴儿（78%）被诊断为脑室扩张。7例婴儿在新生儿期死亡；他们均有脑室扩张，且基本保持稳定。在5例有脑室扩张的婴儿的超声扫描中。7名存活者中，4名出生于1家医院且有脑室扩张，4名有大脑半球间裂增宽。10例婴儿（71%）出现巨头畸形，这是先天性肌强直性营养不良中以前未被认识到的表现，其中8例伴有脑室扩张。无一例有颅内压升高的临床证据。在4例经病理检查的大脑中未发现脑室梗阻。组织学检查显示每位患者均有轻微的神经元迁移障碍表现。我们患者中的巨头畸形以及超声和神经病理学检查结果表明，这些异常可能源于外部性脑积水。
