Figure 2 | Genetics in Medicine

Figure 2

From: The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Figure 2

Selection of brain magnetic resonance images of novel patients. (a) T1-weighted image of patient A-II.1 showing porencephaly with cortical destruction and white matter hyperintensities suggesting calcifications and/or hemorrhage. (b) T2-weighted image of patient A-I.2 showing enlarged perivascular spaces. (c,d) T2-weighed images of patients B-III.1 and B-II.1, with classic left-sided unilateral porencephaly. (e) Fluid-attenuated inversion recovery (FLAIR) image of patient C-II.1, indicating periventricular leukomalacia. (f) FLAIR image of patient D-II.1 depicting severe expansive porencephaly and severe white matter loss. (g) T2-weighed image of patient E-II.1 with left-sided hemorrhage with ipsilateral volume loss of white matter, thalamus, and basal ganglia. (h) T2-weighted image of patient H-II.1 showing right-sided schizencephaly and porencephaly and a small hemorrhage in the left frontal lobe. (i) T2-weighted image of patient J-II.1 with left-sided porencephaly with bilateral ventricular enlargement and leukoencephalopathy. (j) T2-weighted image of patient K-II.1 with a left-sided germinal matrix hemorrhage leading to intraventricular hemorrhage and a left-sided venous infarction. (k) T2-weighted image of patient L-II.2 depicting bilateral severe cerebellar hemorrhage in both hemispheres. (l) FLAIR image of patient M-II.2 showing closed-lip schizencephaly and focal cortical dysplasia. (m,n) Postmortem images of patient E-II., showing ventricular dilatation and a large intraparenchymal hemorrhage.

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