Boltshauser E, Steinlin M, Boesch C, Martin E, Schubiger G
Children's University Hospital, Zürich, Switzerland.
Neuropediatrics. 1991 Feb;22(1):33-5. doi: 10.1055/s-2008-1071412.
Three children, one pair of siblings and a sporadic case, with "infantile (familial) encephalopathy with cerebral calcification and leukodystrophy" are reported. Neuroimaging studies demonstrated extensive bilateral calcifications particularly in paraventricular location and within the cerebral white matter. MRI, performed in two infants, confirmed marked white matter involvement with diffuse delay of myelination. This condition can be added to the growing list of leukodystrophies.
报告了三名患有“伴有脑钙化和脑白质营养不良的婴儿(家族性)脑病”的儿童,其中一对是兄弟姐妹,另一例为散发病例。神经影像学研究显示广泛的双侧钙化,尤其是在脑室旁区域和脑白质内。对两名婴儿进行的MRI检查证实脑白质明显受累,伴有弥漫性髓鞘形成延迟。这种病症可被添加到不断增加的脑白质营养不良疾病列表中。