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Table 3 MRI findings

From: Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Results

# (%)

In acute crises: high signal T2 with swelling in basal ganglia (caudate and pautamen) diffuse cortical, subcortical white matters and infratentorial brain.

13/13 (100%)

In chronic follow up: high signal T2 in basal ganglia (caudate and pautamen) with atrophy and necrosis

13/13 (100%)

Thalami

4/13 (31%)

Brain stem – all 4 patients had midbrain involvement and one had medulla oblongata as well.

4/13 (31%)

Cerebellum – all 4 patients had cortical involvement, and it was more diffuse in one patient.

4/13 (31%)

Spine – cervical spinal cord

1/13 (7.6%)