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Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital
1Department of Pediatrics, University of Washington School of Medicine, Seattle, USA.
Annals of Neurology
|January 13, 2000
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.