It presents early in life with psychomotor regression, abnormal muscle tone, weakness, dystonia, brainstem and cerebellar dysfunction (ataxia), visual loss, missed milestones
[ijri.org]
One or more of the following: characteristic feature on neuroimaging (b/l symmetrical hyperintense signal abnormality in brainstem and/or basal ganglia on T2).
[annalsofian.org]
Pathological findings at neonatal period and epilepsy were described to be related to more frequent relapses as the age of onset, brainstem abnormalities in neuroimaging studies
[ojrd.biomedcentral.com]