Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

Charles Qingchuan Li, Bruce A Barshop, Annette Feigenbaum, Paritosh C Khanna

Abstract


Homocystinuria is an inherited metabolic disorder most commonly caused by cystathionine β-synthase deficiency. Severe cases can cause white matter abnormalities that can mimic other vascular, toxic and metabolic disorders on computed tomography and magnetic resonance imaging. We present such a case which demonstrates not only extensive white matter abnormalities on magnetic resonance imaging, but also previously unreported basal ganglia signal abnormalities and imaging manifestations of increased intracranial pressure, likely caused by elevated methionine and betaine therapy. We also review the literature and discuss the potential underlying biologic mechanisms of these imaging findings.

Keywords


homocystinuria; cystathionine beta synthase deficiency; magnetic resonance imaging; brain; cerebral edema; intracranial pressure; white matter; diffusion restriction



DOI: https://doi.org/10.3941/jrcr.v12i1.3207