Fig. 1

Skin patches and Brain MRI. 1.1: skin patches of brownish discoloration. Detected in the older patient. Images (a, b, and c) showed multiple, variable-sized areas of darkened “brownish” skin discoloration on the upper right thigh, left thigh and above the right nipple, respectively. The outline-edges of some of those areas look darker. Such variable-sized, multiple and brownish skin areas with darker outline were also seen on the abdomen and upper arms (data not shown). 1.2: Brain MRI of the three brothers. MRI Scans of younger patient, II.3: Axial T2 weighted image (d) showed slit like widely separated lateral ventricles with slightly dilated occipital horns (yellow arrow), bilateral peri-trigonal multiple variable size cystic white matter changes, and mild frontal cerebral atrophy. Sagittal T1- weighted images at different levels (e1& e2) showed markedly hypoplastic corpus callosum with absent splenium and posterior part of its body with secondary uplifted third ventricle. Prominent pre-pontine, supra- and infra- cerebellar cisterns and basal cistern were obviously noticeable in the youngest patient. MRI of older patient, II.1: Axial T2- Weighted Image (f) revealed patchy white matter hyperintensities predominantly at the occipital and periventricular white matter. Axial Inversion Recovery Image (g) is showing the wide separation of the bodies of the lateral ventricles secondary to hypoplastic corpus callosum. Midline Sagittal T2-weighted image (h) displayed the markedly hypoplastic body and absent splenium of the corpus callosum. MRI of Normal brother, II.2: Axial T2 weighted (i) showed normal white matter volume and signal and normal gyration pattern with well-formed corpus callosum. Midline sagittal T1 weighted image (j) is showing the well-developed corpus callosum’ parts