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Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review Volume 23, numéro 1, February 2021

Figure 1

Neuroimaging and EEG features of the patient. (A-D) Brain MRI performed at seven years of age; axial (A, B), coronal (C) and sagittal (D) T2-weighted images reveal reduced cerebellar volume with enlargement of the subarachnoid spaces and prevalent involvement of the cerebellar vermis (arrow). There is also associated T2-hyperintensity of the cerebellar dentate nuclei (arrowheads). Note the absence of supratentorial brain lesions. (E-H) Brain MRI performed at 11 years of age; corresponding T2-weighted images demonstrate mild progression of cerebellar atrophy, especially at the level of the superior cerebellar vermis (arrow). Note the persistence of signal alterations of the dentate nuclei. (I) Awake EEG (sens: 10 uV/mm; HF: 70 Hz; LF: 0.1 sec; IS: 10-20), performed at the age of 14 years, a few months after starting treatment with CoQ10, showing bilateral occipital spike and polyspikes, and Grade 3 to 4 PPR during IPS at 20 Hz and 16 Hz. (J) Awake EEG, performed after 1.5 years of CoQ10 treatment, showing bilateral occipital spikes and polyspikes with Grade 1 PPR during IPS at 20 Hz.