L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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, an...
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| Published in | Annals of clinical and translational neurology Vol. 8; no. 10; pp. 2004 - 2012 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
John Wiley & Sons, Inc
01.10.2021
John Wiley and Sons Inc Wiley |
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| 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. |
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| AbstractList | 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. 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. 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. 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. |
| Author | Accogli, Andrea Salpietro, Vincenzo De Marco, Patrizia Baptista, Julia Fahey, Michael Toto, Valentina Trayers, Claire Ben Sira, Liat Mankad, Kshitij Reches, Adi Gaetano Vellone, Valerio Srour, Myriam Rossi, Andrea Spaccini, Luigina Parazzini, Cecilia Menzies, Lara Paladini, Dario Goergen, Stacy Carpineta, Lucia Fulcheri, Ezio Izzo, Giana Tortora, Domenico Capra, Valeria Malinger, Gustavo Krajden Haratz, Karina Zara, Federico Severino, Mariasavina |
| AuthorAffiliation | 5 Neuroradiology Unit Great Ormond Street Hospital for Children London UK 15 Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini Genoa Italy 17 Pathology Division Department of Health Sciences San Paolo Hospital University of Milan Milan Italy 7 Paediatric Neurology and Neurogenetics Units Monash Children’s Hospital Clayton Clayton Victoria Australia 11 Department of Pediatric Medical Imaging Montreal Children's Hospital McGill University Montreal Quebec Canada 9 Exeter Genomics Laboratory Royal Devon and Exeter NHS Hospital Exeter UK 13 Fetal‐Perinatal Pathology Unit IRCCS Istituto Giannina Gaslini Genoa Italy 18 Department of Paediatric Pathology Addenbrooke’s Hospital Cambridge UK 1 Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy 3 Monash Imaging Monash Health Clayton Victoria Australia 16 Clinical Genetics Unit Department of Obstetrics and Gynecology V. Buzzi Children's Hospital Milan Italy 12 Neuroradiology Unit IRCCS Istituto Giannina Gaslini Genoa Italy 21 Pedi |
| AuthorAffiliation_xml | – name: 16 Clinical Genetics Unit Department of Obstetrics and Gynecology V. Buzzi Children's Hospital Milan Italy – name: 18 Department of Paediatric Pathology Addenbrooke’s Hospital Cambridge UK – name: 11 Department of Pediatric Medical Imaging Montreal Children's Hospital McGill University Montreal Quebec Canada – name: 1 Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy – name: 21 Pediatric Neurology and Muscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy – name: 14 Department of Surgical Sciences and Integrated Diagnostics Università di Genova Genoa Italy – name: 9 Exeter Genomics Laboratory Royal Devon and Exeter NHS Hospital Exeter UK – name: 10 College of Medicine and Health University of Exeter Exeter UK – name: 12 Neuroradiology Unit IRCCS Istituto Giannina Gaslini Genoa Italy – name: 19 Pediatric Radiology Dana Children’s Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel – name: 13 Fetal‐Perinatal Pathology Unit IRCCS Istituto Giannina Gaslini Genoa Italy – name: 2 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy – name: 20 Wolfe PGD‐ Stem Cell Lab Racine IVF Unit Lis Maternity Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel Genetic Institute Tel Aviv Sourasky Medical Center Tel Aviv Israel – name: 23 Department of Health Sciences DISSAL University of Genoa Genoa Italy – name: 3 Monash Imaging Monash Health Clayton Victoria Australia – name: 4 Department of Pediatric Radiology and Neuroradiology V. Buzzi Children's Hospital Milan Italy – name: 6 Division of Ultrasound in ObGyn Lis Maternity Hospital Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel – name: 17 Pathology Division Department of Health Sciences San Paolo Hospital University of Milan Milan Italy – name: 15 Fetal Medicine and Surgery Unit IRCCS Istituto Giannina Gaslini Genoa Italy – name: 22 Department of Pediatrics Montreal Children's Hospital McGill University Health Center (MUHC) Montreal Canada – name: 5 Neuroradiology Unit Great Ormond Street Hospital for Children London UK – name: 7 Paediatric Neurology and Neurogenetics Units Monash Children’s Hospital Clayton Clayton Victoria Australia – name: 8 Department of Clinical Genetics Great Ormond Street Hospital London UK |
| Author_xml | – sequence: 1 givenname: Andrea orcidid: 0000-0001-8724-6721 surname: Accogli fullname: Accogli, Andrea organization: University of Genoa – sequence: 2 givenname: Stacy surname: Goergen fullname: Goergen, Stacy organization: Monash Health – sequence: 3 givenname: Giana orcidid: 0000-0002-6407-7950 surname: Izzo fullname: Izzo, Giana organization: V. Buzzi Children's Hospital – sequence: 4 givenname: Kshitij surname: Mankad fullname: Mankad, Kshitij organization: Great Ormond Street Hospital for Children – sequence: 5 givenname: Karina surname: Krajden Haratz fullname: Krajden Haratz, Karina organization: Tel Aviv University – sequence: 6 givenname: Cecilia surname: Parazzini fullname: Parazzini, Cecilia organization: V. Buzzi Children's Hospital – sequence: 7 givenname: Michael surname: Fahey fullname: Fahey, Michael organization: Monash Children’s Hospital Clayton – sequence: 8 givenname: Lara surname: Menzies fullname: Menzies, Lara organization: Great Ormond Street Hospital – sequence: 9 givenname: Julia orcidid: 0000-0003-0915-5028 surname: Baptista fullname: Baptista, Julia organization: University of Exeter – sequence: 10 givenname: Lucia surname: Carpineta fullname: Carpineta, Lucia organization: McGill University – sequence: 11 givenname: Domenico orcidid: 0000-0002-5621-4046 surname: Tortora fullname: Tortora, Domenico organization: IRCCS Istituto Giannina Gaslini – sequence: 12 givenname: Ezio surname: Fulcheri fullname: Fulcheri, Ezio organization: Università di Genova – sequence: 13 givenname: Valerio surname: Gaetano Vellone fullname: Gaetano Vellone, Valerio organization: Università di Genova – sequence: 14 givenname: Dario surname: Paladini fullname: Paladini, Dario organization: IRCCS Istituto Giannina Gaslini – sequence: 15 givenname: Luigina surname: Spaccini fullname: Spaccini, Luigina organization: V. Buzzi Children's Hospital – sequence: 16 givenname: Valentina surname: Toto fullname: Toto, Valentina organization: University of Milan – sequence: 17 givenname: Claire surname: Trayers fullname: Trayers, Claire organization: Addenbrooke’s Hospital – sequence: 18 givenname: Liat surname: Ben Sira fullname: Ben Sira, Liat organization: Tel Aviv University – sequence: 19 givenname: Adi surname: Reches fullname: Reches, Adi organization: Tel Aviv Sourasky Medical Center – sequence: 20 givenname: Gustavo surname: Malinger fullname: Malinger, Gustavo organization: Tel Aviv University – sequence: 21 givenname: Vincenzo surname: Salpietro fullname: Salpietro, Vincenzo organization: IRCCS Giannina Gaslini Institute – sequence: 22 givenname: Patrizia surname: De Marco fullname: De Marco, Patrizia organization: IRCCS Istituto Giannina Gaslini – sequence: 23 givenname: Myriam surname: Srour fullname: Srour, Myriam organization: McGill University Health Center (MUHC) – sequence: 24 givenname: Federico surname: Zara fullname: Zara, Federico organization: University of Genoa – sequence: 25 givenname: Valeria orcidid: 0000-0002-3097-0388 surname: Capra fullname: Capra, Valeria organization: IRCCS Istituto Giannina Gaslini – sequence: 26 givenname: Andrea orcidid: 0000-0001-8575-700X surname: Rossi fullname: Rossi, Andrea email: andrearossi@gaslini.org organization: University of Genoa – sequence: 27 givenname: Mariasavina orcidid: 0000-0003-4730-5322 surname: Severino fullname: Severino, Mariasavina organization: IRCCS Istituto Giannina Gaslini |
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| Snippet | Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging... Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR... Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR... |
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| SubjectTerms | 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 |
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| Title | L1CAM variants cause two distinct imaging phenotypes on fetal MRI |
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