Mandel H, Brik R, Ludatscher R, Braun J, Berant M
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Am J Med Genet. 1993 Aug 1;47(1):37-40. doi: 10.1002/ajmg.1320470108.
We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities ("CMD Plus" condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies.
我们报告了一名患有先天性肌营养不良（CMD）并伴有神经异常（“CMD Plus”病症）的女婴，她还患有先天性巨结肠症。这种关联可能表明存在一类累及内脏神经系统的先天性肌营养不良。我们建议将先天性巨结肠症添加到与“CMD Plus”系列相关的异常列表中，并且当先天性巨结肠症与中枢神经系统异常同时出现时应考虑CMD。
