Linked Life Data

18485929

Source:http://linkedlifedata.com/resource/pubmed/id/18485929

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-5-19
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1531-5037
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
E13-7
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.
pubmed:affiliation
Department of Pediatric Surgery, Neurosurgery, First Surgery, Hokkaido University Graduate School of Medicine, Sapporo, 060-8648, Japan. shigeru-nakakimura@jcom.home.ne.jp
pubmed:publicationType
Journal Article, Review, Case Reports