title: Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.
abstract: The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in 4 affected boys with L1CAM mutations. The DWI findings correlated with the neuropathological findings in a fifth patient. DWI may be a useful technique to screen for boys with L1CAM mutations.
authors.affiliation: Department of Pediatrics, University of Washington School of Medicine, Seattle, USA.
authors.forename: W D
authors.initials: WD
authors.lastname: Graf
authors.forename: D E
authors.initials: DE
authors.lastname: Born
authors.forename: D W
authors.initials: DW
authors.lastname: Shaw
authors.forename: J R
authors.initials: JR
authors.lastname: Thomas
authors.forename: L W
authors.initials: LW
authors.lastname: Holloway
authors.forename: R C
authors.initials: RC
authors.lastname: Michaelis
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology*; D007223:Infant; D039841:Leukocyte L1 Antigen Complex; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D011149:Pons / Q000473:pathology
chemical_list: D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules