Congenital Megacolon & MECP2 Duplication Syndrome

A new article in BioMed Central Medical Genetics links MECP2 Duplication Syndrome and Hirschprung Disease, also known as Congenital Megacolon. The authors report on a child diagnosed with both conditions. They point out that teh L1CAM and MECP2 genes are in close physical proximity, that defects in L1CAM have already been linked to megacolon in some cases,  and that most individuals with MECP2 duplication also have duplication of the L1CAM gene.

Congenital megacolon can exist with varying degrees of severity and and most individuals with MECP2 Duplication  do not exhibit the severe symptoms typically seen in classic cases of congenital megacolon, but they do show some milder symptoms. No doubt, it will take medical science considerable time to sort this out entirely. However, it is clear that many probably most individuals with MECP2 duplication share some of the symptoms seen in milder cases of congenital megacolon….  Chronic constipation that tends to get worse as they grow older, varying degrees of abdominal distension, tendency to develop bowel obstruction or pseudo-obstruction.

Until we have clearer information, it may be useful to use what we already know about managing Hirschprung disease in treating the constipation problems that we find in individuals with MECP2 Duplication Syndrome. If possible, these may be limited to the nonsurgical treatment in most cases.

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Raquel FernandezRocio Nunez-TorresAntonio Gonzalez-MenesesGuillermo AntinoloSalud Borrego  BMC Medical Genetics 2010, 11:137

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