The L1 cell adhesion molecule (L1CAM) protein is found primarily in the nervous system and is important in neuronal adhesion, migration, neurite outgrowth, and myelination. It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). Herein, we report 2 cases—the first showed abnormality of the L1CAM genes and developed HSCR; and the second, with clinically suspected XLH, was successfully operated on for HSCR.
The L1 cell adhesion molecule (L1CAM) protein is found primarily in the nervous system and is important in neuronal adhesion, migration, neurite outgrowth, and myelination. It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). Herein, we report 2 cases—the first showed abnormality of the L1CAM genes and developed HSCR; and the second, with clinically suspected XLH, was successfully operated on for HSCR.