Succinic semialdehyde dehydrogenase deficiency
May. 26, 2023
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Brain MRI at the age of 12 years, at the time of the initial attack. (A1) T2-weighted axial MRI showing a large parietal lesion with edema and mass effect. The lesion is surrounded by a hypointense rim. (A2) T1-weighted axial MRI with gadolinium at same level as A1 showing an open-ring enhancement pattern. (A3) T2-weighted axial MRI at same level as A1 showing near-complete resolution of the lesion with residual brain biopsy defect. (Contributed by Dr. Claudia Lucchinetti.)