Dopamine beta-hydroxylase deficiency
Apr. 29, 2024
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Rasmussen syndrome in 5-year-old boy (clinical findings)
Coronal MRI with hypointensity on T1 (A) and increased FLAIR in the right peri-insular region (B) (white arrows). One month later, the area of inflammation is much larger (C and D; white arrow). FDG-PET scan showed patchy areas of increased metabolism in the right frontal lobe (E) surrounded by hypometabolism on the FDG-PET/MRI coregistration in the peri-insular region (F). Cut surface of the resected insular region shows diffuse cortical atrophy and necrosis (G; arrow). Histopathology was consistent with Rasmussen syndrome by demonstrating astrogliosis, neuronal loss, and lymphocytic aggregates (H). (Contributed by Dr. Gary Mathern.)