Open AccessL1CAM variants cause two distinct imaging phenotypes on fetal MRI
Author(s) -
Accogli Andrea,
Goergen Stacy,
Izzo Giana,
Mankad Kshitij,
Krajden Haratz Karina,
Parazzini Cecilia,
Fahey Michael,
Menzies Lara,
Baptista Julia,
Carpineta Lucia,
Tortora Domenico,
Fulcheri Ezio,
Gaetano Vellone Valerio,
Paladini Dario,
Spaccini Luigina,
Toto Valentina,
Trayers Claire,
Ben Sira Liat,
Reches Adi,
Malinger Gustavo,
Salpietro Vincenzo,
De Marco Patrizia,
Srour Myriam,
Zara Federico,
Capra Valeria,
Rossi Andrea,
Severino Mariasavina
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51448
Subject(s) - medicine , brainstem , dysgenesis , hypoplasia , aqueductal stenosis , fetus , anatomy , hydrocephalus , cerebellar hypoplasia (non human) , dysplasia , pathology , white matter , phenotype , magnetic resonance imaging , cerebellum , radiology , biology , pregnancy , biochemistry , genetics , gene
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.