Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases

被引:51
作者
Goutieres, F
Boulloche, J
Bourgeois, M
Aicardi, J
机构
[1] HOP NECKER ENFANTS MALAD, DEPT PEDIAT, CHILD NEUROL UNIT, F-75743 PARIS 15, FRANCE
[2] CTR HOSP, PEDIAT UNIT, LE HAVRE, FRANCE
关键词
D O I
10.1177/088307389601100604
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy. Two were brothers and three had consanguineous parents. No metabolic defect was detected. The clinical and magnetic resonance imaging features are similar to those of patients previously reported. These five new cases add arguments to delineate a new type of leukodystrophy with megalencephaly in infancy and autosomal recessive inheritance.
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页码:439 / 444
页数:6
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