JRCR - Journal of Radiology Case Reports JRCR - Journal of Radiology Case Reports
Discussion started by Charles Li 11 months ago

Dear JRCR editor(s):


I am submitting for your preliminary evaluation a case of poorly controlled homocystinuria due to cystathionine β-synthase deficiency in a 2-year-old female, who developed asymptomatic papilledema and was found to have profound cerebral edema, diffuse white matter and patchy basal ganglia diffusion restriction, and imaging manifestations of increased intracranial pressure.


In this work, we highlight both previously described and novel MRI findings in our case, none of which have been reported in the radiology literature in the context of this diseaseWe also briefly discuss proposed mechanisms underlying the MRI abnormalities, which are theorized to stem from elevated methionine (not homocysteine), and compare our case to prior reports to add new knowledge and perspective to the paucity of literature regarding this exceedingly rare and poorly understood complication of homocystinuria.


We look forward to your impression of what we regard as work of interest to JRCR's readership.



Charles Li

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