Figure 2.

MRI Pattern I

MRIs (T₂-weighted axial scans) from individual F6:II.1 at 2 and 15 months of age (A, B), individual F6:II.3 at 1 1/2 and 7 months of age (C, D), individual F7:II.2 at 2 and 12 months of age (E, F), and individual F8:II.1 at 5 and 12 1/2 months of age (G, H). Early imaging shows multifocal signal increase in the striatum in all individuals, in part associated with swelling (E). With the exception of individual F8:II.1 (G, H), white matter shows abnormal high signal especially in the frontal lobes. On follow-up, myelination in these three individuals is delayed and white matter volume reduced (best seen in B and D).

Summary: after early infantile pathology in the striatum and in part also white matter, follow-up indicates remission of striatal changes, variable progress of myelination, and white matter atrophy if white matter was initially abnormal.