Fig. 2

MRI of proband siblings. Axial and Coronal T2 are shown for male proband, Z1223 (on the left, images a, c, e) at the age of 44 years old, and the female proband, Z232 (on the right, images b, d, f) at the age of 32 years old. Axial T2 weighted MRI of brain at the level of basal ganglia (A and B: Turbo Spin Echo). Images show in male proband an evident dilatation of the supratentorial ventricular system, diffused hyperintensity of the white matter mainly in the frontal site (a). The female proband possesses the same pattern, but diffused hyperintensity of the white matter is present in both frontal and posterior lobe. A marked hyperostosis is evident (b). Axial T2 weighted MRI of brain at the level of posterior cranial fossa (C and D: T2 FLAIR). Images show in male proband an hyperintensity of the middle cerebellar peduncle and dilatation of the fourth ventricle of the prepontine cistern and subarachnoid spaces (c). The female proband possesses the same pattern although each alteration is more severe (atrophy of cerebellar peduncles, enlargement of the fourth ventricle pre-pontine cistern and subarachnoid spaces) (d). Coronal T2 weighted (E = T2 Turbo Spin Echo; F = T1 Spin Echo). Both male (e) and female (f) proband show a marked enlargement of cortical subarachnoid spaces, enlargement of middle cell of the lateral ventricle enlargement of the fourth ventricle and widespread hyperintensity of the white matter