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. 2021 Jul 9;23(11):2138–2149. doi: 10.1038/s41436-021-01260-4

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — Sagittal (a) and axial (b) T2-weighted images of subject IV-3 from family 1 at the age of 10 revealed no structural brain anomalies but showed microcephaly and thin cerebral cortex. (c) Sagittal T1 section after gadolinium injection of subject II-1 (family 4) at 10 years of age and (d) axial T2-weighted images at 16 years revealed no brain-specific abnormality except for a discreet prominent aspect of the lateral ventricles. (e) Sagittal T1 section after gadolinium injection and (f) axial T2-weighted images of subject II-3 (family 4) at 7 years of age revealed a prominent aspect of the lateral ventricles, of the 3rd and, to a milder degree, of the 4th ventricle. (g) Coronal T2-weighted and (h) axial T2-Flair images of subject IV-2 (family 6) at 3 months of age showing normal signal intensity, age-appropriate myelination process and slightly enlarged cerebrospinal fluid (CSF). Coronal (i) and sagittal (j) computed tomography (CT) images of the same subject at the age of 3 years revealing left-sided subcortical hypodensity within left temporal lobe and confirming prominent CSF space.