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Two different prenatal imaging cerebral patterns of tubulinopathy
Author(s) -
Cabet S.,
Karl K.,
Garel C.,
Delius M.,
Hartung J.,
Lesca G.,
Chaoui R.,
Guibaud L.
Publication year - 2021
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.22010
Subject(s) - medicine , brainstem , dysgenesis , anatomy , prenatal diagnosis , fetus , magnetic resonance imaging , cisterna , neuroimaging , prenatal ultrasound , pathology , radiology , pregnancy , genetics , biology , psychiatry , cell , golgi apparatus
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.