| VI. Basal Ganglia, Brainstem, Cerebellar Changes
| Fig 13. 2 yr old girl
with truncal hypotonia and congenital muscle weakness. A, B. Axial
FLAIR images reveal abnormal foci of increased signal involving
primarily basal ganglia. This appearance is very suggestive of a
mitochondrial disorder but can be seen with infectious or
post-infectious encephalitis as well. |
A. |
B. |
A. |
B. |
C.
|
D.
|
| Fig
14. A, B. 9 month old boy with hyptotonia. Coronal FLAIR
images demonstrate abnormal signal in the putamina, peduncles, and
cerebellum. C, D. Single voxel lactate doublet. These findings are
very suggestive of a mitochondrial OXPHOS disorder.
|
A. |
B. |
C. |
D. |
E.
 |
F.
 |
G. |
H. |
|
| Fig 15. 3 yr old male with new onset
seizures and altered mental status. A, B. Axial FLAIR images show
swelling and abnormal signal within the basal ganglia symmetrically
and within the pons. C, D. Axial DWI demonstrates symmetric foci of
restricted diffusion on B1000 maps consistent with acute ischemia. E.
Single voxel long TE MRS shows the presence of a lactate peak from the
basal ganglia indicating acute alteration of normal metabolism. F.
Follow up MRS shows a decrease in lactate doublet, but some elevation
in the region of lipid resonance. The NAA, Cho and Glx peaks are
decreased and mI is elevated. These findings are consistent with
neuronal injury/loss and gliosis. G, H. The follow-up T2 FSE findings
support the MRS findings. The abnormalities in this case can certainly
be seen with mitochondrial OXPHOS abnormalities but can be seen with
toxin ingestion and ADEM as
well. |
|
