PMC6692767_01
Clinical examination in both fraternal twins. They both present with cerebellar gait and dysmetria as well as distal postural and action tremor of the upper limbs. In addition, the boy displays mild spastic gait and the girl dystonic tremor of the neck (barely noticeable on the video due to regular botulinum toxin injections) as well as dystonic postures of the upper limbs.
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Brain MRI showed diffuse but mild T2- and FLAIR-hyperintensities, with T1-isointensity, of the internal capsules, optic radiations and cortico-spinal tracts, associated with mild T2-hypointensities of the globus pallidi, suggesting a hypomyelinating leukoencephalopathy (Figure 1).