MPPH Syndrome: Two New Cases - 02/08/11
, †, Richard S. Boyer, MD ‡, Gary L. Hedlund, DO ‡, James F. Bale, MD †, ⁎ 
Department of Pediatrics, the University of Utah School of Medicine, Salt Lake City, Utah, and Primary Children’s Medical Center, Intermountain Healthcare Inc., Salt Lake City, Utah Communication should be addressed to: Dr. Bale; Third Floor; Primary Children’s Medical Center; 100 N Mario Capecchi Drive; Salt Lake City, UT 84113.Abstract |
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.
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Vol 44 - N° 5
P. 370-373 - mai 2011 Retour au numéro
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