Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.
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.
Graf
W D
WD
Department of Pediatrics, University of Washington School of Medicine, Seattle, USA.
Born
D E
DE
Shaw
D W
DW
Thomas
J R
JR
Holloway
L W
LW
Michaelis
R C
RC
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
D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules