Figure 2.

Clinical findings of affected individuals

(A) MRI of family 5 (individual 6). Coronal T2 (A1) and axial FLAIR (A2) scans show extensive scarring involving the white and gray matter structures of the brain with frank cavitation involving the caudate nuclei and the adjacent deep white matter of the cerebral hemispheres (arrows-A1). Sagittal T1 (A3) shows a slender corpus callosum (arrow) and axial T2 (A4) image shows symmetric involvement of brain stem nuclei (black arrow).

(B) MRI of family 2 (individual 3). Axial T2 sections showing symmetric involvement of the brain stem nuclei (arrows-B2) and the thalamo-capsular regions bilaterally (black arrow-B3).

(C) MRI of family 6 (individual 7). Axial FLAIR (C1) and post-contrast T1 (C2) images show a low-grade astrocytoma adjacent to the lateral ventricle on the right (arrow-C1).

(D) MRI of family 8 (individual 9). Axial T2 (D1) and sagittal T2 (D2) images show cortical dysgyria (arrows).

(E) Individual 6 in family 5 presents with microcephaly. He has a highly arched palate. He has no visual interaction but makes roving eye movements.

(F) Individual 9 in family 8 presents with macrocephaly and mild dysmorphic features, including bilateral ptosis, highly arched palate, and eye downslanting.