Two different prenatal imaging cerebral patterns of tubulinopathy. (1st March 2021)

• Record Type: Journal Article
• Authors: Cabet, S.; Karl, K.; Garel, C.; Delius, M.; Hartung, J.; Lesca, G.; Chaoui, R.; Guibaud, L.
• Is Part Of: Ultrasound in obstetrics & gynecology. Volume 57:Number 3(2021)
• Page Start: 493
• Page End: 497
• Publication Date: 2021-03-01
• Subjects: asymmetric brainstem -- distortion of interhemispheric fissure -- prenatal imaging -- TUBA1A gene -- TUBB2B gene -- TUBB3 gene -- tubulinopathy; Ultrasonics in obstetrics -- Periodicals; Generative organs, Female -- Diseases -- Diagnosis -- Periodicals; Diagnosis, Ultrasonic -- Periodicals; Genital Diseases, Female -- ultrasonography -- Periodicals; Ultrasonography, Prenatal -- Periodicals; 618.047543
• DOI: 10.1002/uog.22010
• Languages: English
• ISSNs: 0960-7692

Abstract

ABSTRACT: To illustrate the prenatal cerebral imaging features associated with tubulinopathy, we report on five affected fetuses from unrelated families, with a de‐novo heterozygous variant in a tubulin gene ( TUBA1A, TUBB2B or TUBB3 ). We identified two distinct prenatal imaging patterns related to tubulinopathy: a severe form, characterized by enlarged germinal matrices, microlissencephaly and a kinked brainstem; and a mild form which has not been reported previously in the prenatal literature. The latter form is associated with non‐specific features, including an asymmetric brainstem, corpus callosal dysgenesis, a lack of Sylvian fissure operculization and distortion of the anterior part of the interhemispheric fissure with subsequent impacted medial borders of the frontal lobes, the combination of which, in the absence of additional extracerebral anomalies, is highly suggestive of tubulinopathy. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.