Figure 3.

Radiological Findings of Individuals in Our Cohort

Set 1: Individual homozygous for c.32G>C (p.Arg11Pro). Upper row images (coronal T2-WI [1A] and axial T1-WI [1B]) at the age of 10 months show severely delayed myelination and fronto-temporal atrophy. Lower row images (axial T2-WI [1C] and axial T1-WI [1D]) repeated at the age of 18 months show progressive and global brain atrophy with an emerging pattern of severe hypomyelination.

Set 2: An additional homozygous c.32G>C (p.Arg11Pro) individual. Upper row images (axial T2-WI [2A] and axial T1-WI [2B]) at the age of 8 months show mild fronto-temporal underdevelopment and severely delayed myelination. Lower row images (axial T2-WI [2C] and axial T1-W1 [2D]) repeated at the age of 2 years shows progressive and global brain atrophy along with severe hypomyelination.

Set 3: Individual homozygous for c.50C>T (p.Thr17Met). Axial fluid-attenuated inversion recovery (FLAIR) images at the age of 9 months show global atrophy involving the cerebral and cerebellar hemispheres along with severe hypomyelination.

Set 4: MRI images of an individual with the homozygous c.1633C>T (p.Arg545Cyc) variant. Coronal T1-WI (4A), axial T2-WI (4B), and sagittal T1-WI (4C) at the age of 4 years; coronal T1-WI (4D), axial T2-WI (4E), and sagittal T1-WI (4F) at the age of 11 years; and coronal T2-WI (4G), axial FLAIR (4H), and sagittal T2-WI (4I) at the age of 20 years. These demonstrate normal intracranial appearances across the three different ages. This individual had an upper thoracic scoliosis, which was operatively corrected at the age of 4, demonstrated on the sagittal T2-WI of the spine (4J) and frontal projection radiograph of the chest/thoracic spine (4K).