Figure 4.
(A–C) T1-weighted sagittal MRI images indicating variable degree of cerebellar and vermis hypoplasia/atrophy in patients from Families 6, 3 and 1, a spectrum from mild to severe vermis abnormality. (D and E) T2-weighted axial MRI brain images showing increased signal intensity in the parieto-occipital white matter and a small lesion with increased signal intensity left, frontal at the age of 18 months. (F) Slightly enlarged cysterna magna, normal infra-tentorial structures, including normal cerebellum on a T1-weighted sagittal image in Patient 5. (G) T2-weighted axial MRI image indicating retrocerebellar arachnoidal cyst, otherwise normal images of the brain, including white matter signal intensities and gross anatomy of the cerebellum at the age of 4 months in Patient 4. (H and I) T1-weighted para-sagittal MRI image of a retrocerebellar arachnoidal cyst at 2.8 years in Patient 6.