PMC6683205_01
Cerebral magnetic resonance (MR) findings. a Axial T1W, b axial FLAIR, c DWI from Patient 1 at neonatal stage, and d axial T2W at follow-up; e axial T1W and f MR spectroscopy (MRS) at basal ganglia at neonate and g axial T1W at infant stages from Patient 4; h coronal T2W, i sagittal T1W, j axial T2W, k axial T1W from Patient 11. MR features include cerebellar atrophy (white arrows) (h, i) with progression (e, g); cerebral atrophy with frontal and anterior temporal lobar predominance (i-k); thinning of the corpus callosum (i); white matter loss and cystic change with frontal predominance (asterisks) (j, k); basal ganglia involvement with restricted diffusion and cystic change on follow-up (curved arrows) (a-d); lactate peak at around 1.3 ppm on MRS (arrowheads) (f)
41525_2019_91_Fig1_HTML.jpg
PMC6683205_02_41525_2019_91_Fig1_HTML.jpg
Fig1
Basal ganglia and brainstem appeared preserved (Fig. 1h-k).
PMC6683205_02
Cerebral magnetic resonance (MR) findings. a Axial T1W, b axial FLAIR, c DWI from Patient 1 at neonatal stage, and d axial T2W at follow-up; e axial T1W and f MR spectroscopy (MRS) at basal ganglia at neonate and g axial T1W at infant stages from Patient 4; h coronal T2W, i sagittal T1W, j axial T2W, k axial T1W from Patient 11. MR features include cerebellar atrophy (white arrows) (h, i) with progression (e, g); cerebral atrophy with frontal and anterior temporal lobar predominance (i-k); thinning of the corpus callosum (i); white matter loss and cystic change with frontal predominance (asterisks) (j, k); basal ganglia involvement with restricted diffusion and cystic change on follow-up (curved arrows) (a-d); lactate peak at around 1.3 ppm on MRS (arrowheads) (f)
41525_2019_91_Fig1_HTML.jpg
PMC6683205_02_41525_2019_91_Fig1_HTML.jpg
Fig1
Basal ganglia and brainstem appeared preserved (Fig. 1h-k).