Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Maoqiang TianYi QuLingyi HuangXiaojuan SuShiping LiJunjie YingFengyan ZhaoDezhi MuPublished in: BMC pediatrics (2019)
This is the first report of mild ISOD cases with a stable clinical course and spontaneous recovery without dietary therapy. Our study provides an expansion for the clinical spectrum of ISOD. Furthermore, we highlight the importance of including ISOD in the differential diagnosis for patients presenting with late-onset symptoms, bilaterally symmetric regions of abnormal intensities in the basal ganglia, and decreased plasma homocysteine levels.