Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

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 .

Diseases
Validation

Diseases presenting "tuberous sclerosis" symptom

lymphangioleiomyomatosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

proteus syndrome

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