Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

Autor:	W D, Graf, D E, Born, D W, Shaw, J R, Thomas, L W, Holloway, R C, Michaelis
Rok vydání:	2000
Předmět:	Male Membrane Glycoproteins Child Preschool Pons Mutation Humans Infant Child Leukocyte L1 Antigen Complex Magnetic Resonance Imaging Neural Cell Adhesion Molecules Hydrocephalus
Zdroj:	Annals of neurology. 47(1)
ISSN:	0364-5134
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::e7a928fa365fe8a29d1a519a85337688 https://pubmed.ncbi.nlm.nih.gov/10632110 Zobrazit plný text záznamu Plný text