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. 2021 Feb 18;29(9):1405–1417. doi: 10.1038/s41431-021-00821-0

Fig. 4. Cerebral MRI of patients 1, 11, and 19.

Fig. 4

(A) Patient 1 (LoF intragenic pathogenic variant). At 2 years old (A1: axial FLAIR, A2–A4: axial T2): signal hyperintensity in the peritrigonal white matter (see arrows in A1), small thalami (see arrows in A3), small cerebral peduncles (see arrows in A2), paired T2 hyperintensities in the dorsal pons (see arrows in A4). (B) Patient 11 (LoF intragenic pathogenic variant). At 8 months old (B1: sagittal T1, B2: axial FLAIR): markedly decreased white matter as evidenced by a thin corpus callosum (B1 and B2) as well as the sylvian fissures nearly abutting the lateral ventricles (see arrows in B2). (C) Patient 19 (deletion of BCAP31 and adjacent genes). At 6 months (C1: sagittal T1, C2: axial T2): decreased white matter, myelination delay, cortical atrophy, thin corpus callosum and ventricular dilatation. At 2 years old (C3: sagittal T2, C4: axial T2): increased white matter anomalies, marked cortical atrophy, vermian atrophy, and ventricular dilatation.