L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Accogli, Andrea; Goergen, Stacy; Izzo, Giana; Mankad, Kshitij; Haratz, K.K.; Parazzini, Cecilia; Fahey, Michael; Menzies, Lara; Baptista, Júlia; Carpineta, Lucia; Tortora, Domenico; Fulcheri, Ezio; Vellone, Valerio Gaetano; Spaccini, Luigina; Toto, Valentina; Trayers, Claire; Ben-Sira, Liat; Reches, Adi; Malinger, G.; Salpietro, Vincenzo; Marco, Patrizia De; Srour, Myriam; Zara, Federico; Capra, Valeria; Rossi, Andrea; Severino, Mariasavina

doi:10.1002/acn3.51448

Cited by 9 publications

(13 citation statements)

References 32 publications

(84 reference statements)

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“…16 Non-sense, missense and frameshift mutations have been observed in association with fetal X-linked hydrocephalus in male fetuses. 14,17 Authors have identified MPDZ mutation, TRIM 1, SMARCC 1, PTCH, SHH and POMT2 in association with congenital hydrocephalus in male fetuses with or without any positive family history. 18,19 In a case-control study in Ethiopia, only 2 cases of enlarged fetal ventricular system were reported to be associated with consanguinity.…”

Section: Discussionmentioning

confidence: 99%

A study relating fetal hydrocephalus with family history and consanguinity in Pakistani population.

Surti¹,

Usmani²,

Javaid³

2023

TPMJ

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Objective: To correlate the amniotic fluid index (AFI), measurements of biparietal diameter (BPD) and head circumference (HC) with atrium of lateral ventricle measurements (ALV) and relate the association of fetal hydrocephalus with family history and consanguinity. Study Design: Cross-sectional study. Setting: Private Ultrasound Clinic, Karachi. Period: December 2018 – July 2019. Material & Methods: Thirty six patients were inducted in the study. Female patients of age range of 18-41 years with gestational age of 21-39 weeks were inducted into the study after informed consent. Toshiba Aplio 300 ultrasound machine was used to measure, atrium of lateral ventricle, biparietal diameter, fetal length, head circumference and amniotic fluid index. Association between ALV and BPD, family history and consanguinity was seen by applying independent t-test while Pearson’s correlation was used to correlate the measurements of ALV and head circumference. Results: Atrium of lateral ventricle measurements >10mm were diagnosed as hydrocephalus. It was observed that hydrocephalus was associated with normal volumes of amniotic fluid with highly significant results (<0.000). Furthermore, the study also reported a strong association of family history and consanguineous marriages with hydrocephalus. A negative correlation was however observed between measurements of atrium of lateral ventricle and head circumference. Conclusion: Hydrocephalus was found to be associated with normal volumes of amniotic flid and had a strong association with family history and consanguinity.

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Section: Discussionmentioning

confidence: 99%

A study relating fetal hydrocephalus with family history and consanguinity in Pakistani population.

Surti¹,

Usmani²,

Javaid³

2023

TPMJ

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“…However, kinked brainstem has been described in other prenatal conditions, related to KIAA1109, L1CAM, Walker-Warburg syndrome (WWS) and tubulinopathies. [3][4][5][6][7][8] Analysis of supra-tentorial structures is highly useful in differentiating RAC3-related fetopathy from those entities. Indeed, in our case, no microlissencephaly nor voluminous germinal matrices suggestive of both KIAA1109-fetopathies or severe form of tubulinopathy 5,6 was shown.…”

Section: Discussionmentioning

confidence: 99%

“…In the present fetus, infra‐tentorial imaging analysis showed kinked brainstem with a flattened and bifid elongated pons characterized of severe brainstem dysgenesis, which has not been reported in post‐natal cases of RAC3 pathogenic variants. However, kinked brainstem has been described in other prenatal conditions, related to KIAA1109 , L1CAM , Walker‐Warburg syndrome (WWS) and tubulinopathies 3‐8 . Analysis of supra‐tentorial structures is highly useful in differentiating RAC3 ‐related fetopathy from those entities.…”

Section: Discussionmentioning

confidence: 99%

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses

et al. 2022

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Key points What’s already known about this topic? Six individuals between 5‐ and 19‐year‐old were reported with pathogenic variants in RAC3 responsible for brain malformations involving midline. What does this study add? RAC3‐fetopathy is associated with fetal akinesia deformation sequence, and complex brain malformations including corpus callosum agenesis, diencephalosynapsis, kinked brainstem, and vermian hypoplasia. The differential diagnoses with prenatal kinked brainstem include fetopathies related to KIAA1109, L1CAM, Walker‐Warburg syndrome and tubulinopathies. The present report adds the RAC3 related condition to this list.

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“…It is an X‐linked developmental disorder due to L1CAM mutations, characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The MRI findings include DMJD variably associated with diencephalosynapsis (lack of separation between the two thalami visualized as a large massa intermedia without a cleavage), ventriculomegaly, and corpus callosum agenesis 22 . Recognition of adducted thumbs is also possible on fetal MRI.…”

Section: Diencephalic‐mesencephalic Junction Dysplasiamentioning

confidence: 99%

Second trimester fetal MRI of the brain: Through the ground glass

Fileva

Severino

Tortora

et al. 2023

J of Clinical Ultrasound

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Fetal MRI is an important tool for the prenatal diagnosis of brain malformations and is often requested after second-trimester ultrasonography reveals a possible abnormality. Despite the immature state of the fetal brain at this early stage, early suggestive signs of the presence of brain malformations can be recognized. To differentiate between the normal dynamics of the growing brain and the developing pathological conditions can be challenging and requires extensive knowledge of normal central nervous system developmental stages and their neuroradiological counterparts at those different stages. This article reviews the second-trimester appearances of some commonly encountered brain malformations, focusing on helpful tricks and subtle signs to aid in the diagnosis of such conditions as rhombencephalosynapsis, various causes of vermian rotation, molar tooth spectrum anomalies, diencephalicmesencephalic junction dysplasia, ganglionic eminence anomalies, and the most common malformations of cortical development.

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L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Cited by 9 publications

References 32 publications

A study relating fetal hydrocephalus with family history and consanguinity in Pakistani population.

A study relating fetal hydrocephalus with family history and consanguinity in Pakistani population.

Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses

Second trimester fetal MRI of the brain: Through the ground glass

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