Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria

Authors

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

DOI:

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

Keywords:

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

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.

Author Biographies

Charles Qingchuan Li

Department of Radiology

Bruce A Barshop

Department of Pediatrics

Annette Feigenbaum

Department of Pediatrics

Paritosh C Khanna

Department of Radiology

Published

2018-01-28

Issue

Section

Pediatric Radiology