Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM
2004; Springer Nature; Volume: 49; Issue: 6 Linguagem: Inglês
10.1007/s10038-004-0153-4
ISSN1435-232X
AutoresNobuhiko Okamoto, Rolando F. Del Maestro, Rebeca Valero, Eugènia Monrós, Pilar Póo, Yonehiro Kanemura, Mami Yamasaki,
Tópico(s)Fetal and Pediatric Neurological Disorders
ResumoAbnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. We suspect that decreased L1CAM may be a modifying factor in the development of HSCR.
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