PMC5771927_01
The proband at ages 1 month (A), 13 months (B), and 2 years (C). Note progressive microcephaly.
CCR3-6-170-g001.jpg
PMC5771927_01_CCR3-6-170-g001.jpg
ccr31310-fig-0001
The proband (Fig. 1) was initially referred to medical genetics at 6 months of age due to a possible movement disorder.
PMC5771927_02
Axial (top) and sagittal (bottom) MRI views of the proband's brain performed at 5 months of age (A, B), 13 months of age (C, D), and 19 months of age (E, F) demonstrating diffuse, progressive cerebral white matter volume loss.
CCR3-6-170-g002.jpg
PMC5771927_02_CCR3-6-170-g002.jpg
ccr31310-fig-0002
A brain MRI (Fig. 2) performed at the hospital where he was seen previously was reviewed and showed progressive degeneration of the brain, with both cerebral and cerebellar atrophy, in addition to ventriculomegaly and enlargement of the subarachnoid spaces.