Clinical and Neuroradiologic Characteristics of the Seven Probands
(A) Individual 1 at 20 months of age.
(B) Individual 2 at 12 years of age.
(C) Individual 3 at 9 years of age.
(D) Individual 4 at 3.5 years of age.
(E) Individual 6 at 13 months of age.
(F) Individual 7 at 12 years of age.
(G–P) Axial T1 and T2 brain MRI images demonstrating mildly delayed myelination in individual 1 at 9 months old (G, L); severely delayed myelination and volume loss in individual 4 at 3 years old (H, M); severely delayed myelination and minimal volume loss in individual 5 at 10 years old (I, N); volume loss with normal myelination in individual 6 at 12 months old (J, O); and normal myelination and brain volume in individual 7 at 10 years old (K, P).