Abstract
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. When a patient with ACS or XLH presents with constipation, we must consider
HSCR in the differential diagnosis, and early treatment is important. Furthermore,
it is desirable to select a line treatment of HSCR to prevent infection of the ventriculoperitoneal
shunt if the patient requires it.
Key words
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Article info
Publication history
Accepted:
December 27,
2007
Received in revised form:
December 26,
2007
Received:
September 22,
2007
Identification
Copyright
© 2008 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
