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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

MRI brain axial T2 weighted spin echo images (images A to F) and MRI spine sagittal T2 weighted image (image G). Upper column: (A, B, C) was done for the patient during the acute crisis. A: This image shows high T2 signal and swelling of substantia nigra (at midbrain), and signal abnormality with swelling of right inferior frontal gyrus in the cortical and subcortical region. B: It shows high T2 signal and swelling of lentiform, caudate head with small necrotic changes and involvement of medial thalami. C: It shows focal high T2 cortical signal and subcortical white matter signal at both frontal and parietal lobes. Lower column: (D, E, F) was done as a follow up exam for the same patient during chronic stage of the disease. D: This image was done at the level of the midbrain and shows focal high T2 fluid signal in the substantia nigra which evolved from swelling seen during the acute crisis (image A). E: It shows high T2 (fluid signal) and atrophy in the basal ganglia (lentiform and caudate nuclei) indicates evolved swelling into necrosis. F: It shows interval resolution of the cortical and subcortical signal seen during the acute crisis at the frontal lobes. MRI Image of the spine (G) shows patchy high T2 intramedullary signal most conspicuous in the cervical spinal cord with swelling extends from C3 to C7 vertebral level.

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