Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah, USA.
Pediatr Neurol. 2011 May;44(5):370-3. doi: 10.1016/j.pediatrneurol.2010.12.009.
This report describes 2 additional cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, a recently recognized disorder of infants and young children with macrocrania, developmental delay/mental retardation, and often epilepsy. Medulloblastoma, a previously unreported feature in megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome, developed in one child at 3 years of age. Although the disorder is presumed to be genetic, the cause of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus syndrome has not yet been determined.
本报告描述了另外 2 例巨脑症和额顶叶多小脑回畸形伴后轴多指和脑积水综合征病例，这是一种最近才被认识的婴儿和幼儿疾病，其特征为大头畸形、发育迟缓/智力迟钝，且常伴有癫痫。髓母细胞瘤是巨脑症和额顶叶多小脑回畸形伴后轴多指和脑积水综合征中以前未报道过的特征，在一个 3 岁的孩子中发展。尽管该疾病被认为是遗传的，但巨脑症和额顶叶多小脑回畸形伴后轴多指和脑积水综合征的病因尚未确定。
