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These males usually have severe mental retardation and may have spastic paraplegia and adducted thumbs. In contrast, Hirschsprung disease, or absence of ganglion cells in the distal gut, has rarely been described in such individuals. We report a male infant who had severe hydrocephalus identified in the prenatal period with evidence of aqueductal stenosis and adducted thumbs at birth. He developed chronic constipation, and rectal biopsy confirmed the diagnosis of Hirschsprung disease. Molecular testing of the <jats:italic>L1CAM<\/jats:italic> gene revealed a G2254A mutation, resulting in a V752M amino acid substitution. A common polymorphism in <jats:italic>RET<\/jats:italic>, but no mutation, was identified. Our patient represents the third example of coincident hydrocephalus and Hirschsprung disease in an individual with an identified <jats:italic>L1CAM<\/jats:italic> mutation. We hypothesize that L1CAM\u2010mediated cell adhesion may be important for the ability of ganglion cell precursors to populate the gut, and that <jats:italic>L1CAM<\/jats:italic> may modify the effects of a Hirschsprung disease\u2013associated gene to cause intestinal aganglionosis. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10185","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T04:51:41Z","timestamp":1030251101000},"page":"51-56","source":"Crossref","is-referenced-by-count":47,"title":["Hydrocephalus and intestinal aganglionosis: Is <i>L1CAM<\/i> a modifier gene in Hirschsprung disease?"],"prefix":"10.1002","volume":"108","author":[{"given":"Melissa A.","family":"Parisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raj 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