Two different prenatal imaging cerebral patterns of tubulinopathies.

To illustrate the prenatal imaging cerebral features associated with tubulinopathies, we report the data of five affected individuals from unrelated families with de novo heterozygous variants in tubulin genes (TUBA1A, TUBB2B, or TUBB3). We identified two distinct prenatal imaging patterns related to tubulinopathies: a severe form, characterized by voluminous germinal matrices, microlissencephaly, and a kinked brainstem, and a mild prenatal form which has not previously been reported in the prenatal literature. This latter form is associated with non-specific features, including an asymmetric brainstem, distortion of the anterior part of the interhemispheric fissure with subsequent impacted medial borders of the frontal lobes, callosal dysgenesis, and a lack of Sylvian fissure operculation, the combination of which is highly suggestive of tubulinopathies, in the absence of additional extra-cerebral anomalies. This article is protected by copyright. All rights reserved.