Fig. 2

a) CT Scan of 16 yr old boy with HMGCL2D on day 1 of admission (top row) when GCS was 10 and on day 3 (bottom row) when GCS was 3, and pupils were dilated bilaterally indicating deteriorating cerebral oedema. b) Axial DWI (top row) and T2 (bottom row) images of 16 yr old boy with HMGCL2D on day 3 of admission when GCS was 3. There is infarction involving the occipital and temporal lobes, likely secondary to trans-tentorial herniation and compression of the posterior cerebral arteries. Note also the distended optic nerve sheaths and flattening of the posterior globes, in keeping with significantly elevated intracranial pressure. c) Axial T2 Flair images of case 2 with HMGCLD three years after acute life-threatening event (aged 19 years) continuing to demonstrate deep subcortical white matter abnormality with extensive occipital lobe changes leading to cortical blindness