L1CAM variants cause two distinct imaging phenotypes on fetal MRI

• Published in: Annals of clinical and translational neurology Vol. 8; no. 10; pp. 2004 - 2012
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.10.2021; John Wiley and Sons Inc; Wiley
• Subjects: Brain - abnormalities; Brain - diagnostic imaging; Brief Communication; Cell adhesion & migration; Fetus - abnormalities; Fetus - diagnostic imaging; Fetuses; Genotype & phenotype; Humans; Hydrocephalus; Hypothalamus; Magnetic Resonance Imaging; Male; Medical imaging; Mutation; Nervous System Malformations - diagnostic imaging; Nervous System Malformations - genetics; Neural Cell Adhesion Molecule L1 - genetics; Pediatrics; Phenotype; Prenatal Diagnosis; Retrospective Studies; United States > US
• ISSN: 2328-9503; 2328-9503
• DOI: 10.1002/acn3.51448

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.