MPPH Syndrome: Two New Cases

作者:Osterling Wendy L; Boyer Richard S; Hedlund Gary L; Bale James F Jr*
来源:Pediatric Neurology, 2011, 44(5): 370-373.
DOI:10.1016/j.pediatrneurol.2010.12.009

摘要

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.

  • 出版日期2011-5