Couper R T, Byard R W, Cutz E, Stringer D A, Durie P R
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada.
J Med Genet. 1991 Apr;28(4):274-6. doi: 10.1136/jmg.28.4.274.
Multiple cardiac rhabdomyomata were discovered on necropsy tissue review of a previously well child with megacystis-microcolon-intestinal hypoperistalsis syndrome, who died unexpectedly at home at 40 months of age. Multiple cardiac rhabdomyomata occur rarely and have not previously been reported with this syndrome. They are most frequently associated with tuberous sclerosis. The finding of multiple cardiac rhabdomyomata in this patient suggests the possibility that these two rare conditions may be associated. Putative gene loci for tuberous sclerosis have been assigned to the long arms of chromosomes 9 and 11 and it is possible that the cardiac rhabdomyomata seen in this patient are a serendipitous indicator of the location of the megacystis-microcolon-intestinal hypoperistalsis gene.
对一名曾健康的患有巨膀胱-小结肠-肠蠕动不良综合征的儿童进行尸检组织检查时，发现了多个心脏横纹肌瘤，该患儿40个月大时在家中意外死亡。多个心脏横纹肌瘤很少见，此前该综合征未见相关报道。它们最常与结节性硬化症相关。该患者出现多个心脏横纹肌瘤提示这两种罕见病症可能存在关联。结节性硬化症的假定基因座已定位到9号和11号染色体长臂，该患者所见的心脏横纹肌瘤有可能是巨膀胱-小结肠-肠蠕动不良基因位置的一个意外指示。
