L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Andrea Accogli; Stacy Goergen; Giana Izzo; Kshitij Mankad; Haratz K Krajden; Cecilia Parazzini; Michael Fahey; Lara Menzies; Julia Baptista; Lucia Carpineta; Domenico Tortora; Ezio Fulcheri; Vellone V Gaetano; Dario Paladini; Luigina Spaccini; Valentina Toto; Claire Trayers; Sira L Ben; Adi Reches; Gustavo Malinger; Vincenzo Salpietro; Marco P De; Myriam Srour; Federico Zara; Valeria Capra; Andrea Rossi; Mariasavina Severino

doi:10.1002/acn3.51448

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Haratz K Krajden, Cecilia Parazzini, Michael Fahey, Lara Menzies, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Vellone V Gaetano, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Sira L Ben, Adi Reches, Gustavo MalingerVincenzo Salpietro, Marco P De, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi^*, Mariasavina Severino

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

Abstract

AbstractData 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.

Original language	English
Pages (from-to)	2004-2012
Number of pages	0
Journal	Annals of Clinical and Translational Neurology
Volume	8
Issue number	10
Early online date	12 Sept 2021
DOIs	https://doi.org/10.1002/acn3.51448
Publication status	Published - Oct 2021

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L1CAM variants cause two distinct imaging phenotypes on fetal MRI
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Accogli, A., Goergen, S., Izzo, G., Mankad, K., Krajden, H. K., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Gaetano, V. V., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben, S. L., Reches, A., ... Severino, M. (2021). L1CAM variants cause two distinct imaging phenotypes on fetal MRI. Annals of Clinical and Translational Neurology, 8(10), 2004-2012. https://doi.org/10.1002/acn3.51448

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title = "L1CAM variants cause two distinct imaging phenotypes on fetal MRI",

abstract = "AbstractData 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 = "Andrea Accogli and Stacy Goergen and Giana Izzo and Kshitij Mankad and Krajden, {Haratz K} and Cecilia Parazzini and Michael Fahey and Lara Menzies and Julia Baptista and Lucia Carpineta and Domenico Tortora and Ezio Fulcheri and Gaetano, {Vellone V} and Dario Paladini and Luigina Spaccini and Valentina Toto and Claire Trayers and Ben, {Sira L} and Adi Reches and Gustavo Malinger and Vincenzo Salpietro and De, {Marco P} and Myriam Srour and Federico Zara and Valeria Capra and Andrea Rossi and Mariasavina Severino",

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Accogli, A, Goergen, S, Izzo, G, Mankad, K, Krajden, HK, Parazzini, C, Fahey, M, Menzies, L, Baptista, J, Carpineta, L, Tortora, D, Fulcheri, E, Gaetano, VV, Paladini, D, Spaccini, L, Toto, V, Trayers, C, Ben, SL, Reches, A, Malinger, G, Salpietro, V, De, MP, Srour, M, Zara, F, Capra, V, Rossi, A & Severino, M 2021, 'L1CAM variants cause two distinct imaging phenotypes on fetal MRI', Annals of Clinical and Translational Neurology, vol. 8, no. 10, pp. 2004-2012. https://doi.org/10.1002/acn3.51448

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T1 - L1CAM variants cause two distinct imaging phenotypes on fetal MRI

AU - Accogli, Andrea

AU - Goergen, Stacy

AU - Izzo, Giana

AU - Mankad, Kshitij

AU - Krajden, Haratz K

AU - Parazzini, Cecilia

AU - Fahey, Michael

AU - Menzies, Lara

AU - Baptista, Julia

AU - Carpineta, Lucia

AU - Tortora, Domenico

AU - Fulcheri, Ezio

AU - Gaetano, Vellone V

AU - Paladini, Dario

AU - Spaccini, Luigina

AU - Toto, Valentina

AU - Trayers, Claire

AU - Ben, Sira L

AU - Reches, Adi

AU - Malinger, Gustavo

AU - Salpietro, Vincenzo

AU - De, Marco P

AU - Srour, Myriam

AU - Zara, Federico

AU - Capra, Valeria

AU - Rossi, Andrea

AU - Severino, Mariasavina

PY - 2021/10

Y1 - 2021/10

N2 - AbstractData 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.

AB - AbstractData 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.

U2 - 10.1002/acn3.51448

DO - 10.1002/acn3.51448

M3 - Article

SN - 2328-9503

VL - 8

SP - 2004

EP - 2012

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

IS - 10

ER -

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Abstract

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