L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Ann Clin Transl Neurol
; 8(10): 2004-2012, 2021 10.
Article
in En
| MEDLINE
| ID: mdl-34510796
ABSTRACT
Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic-mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain
/
Neural Cell Adhesion Molecule L1
/
Fetus
/
Nervous System Malformations
Type of study:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Ann Clin Transl Neurol
Year:
2021
Document type:
Article
Affiliation country:
Italia