Last modified: 2018-09-02
Abstract
Introduction: Homocystinuria, caused by cystathionine beta-synthase deficiency (CBS), is a rare inherited disorder involved in the metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems. Homocystinuria is known to have vascular complications, but few reports have associated it with diffuse white matter changes.
Methods: Obtained information via chart review.
Case Description: A 14 month old male with normal newborn screen was admitted to our hospital with seizure like activity. CT scan showed venous hyper dense enlarged cortical vein over right parietal convexity extending into superior sagittal sinus consistent with thrombosis. MRI/MRV showed cerebral venous thrombosis in addition to diffuse white matter changes of both cerebral hemispheres and involving the corpus callosum, anterior commissure, and internal capsule. Lab testing showed elevated homocysteine of 260.61 umol/L and elevated methionine 118 umol/L. Homocystinuria gene panel testing showed c.904G>A and c.667-14_667-7del in the CBS gene, one likely pathogenic and one of uncertain significance. After diagnosis, he was started on enoxaparin injections, low methionine diet and betaine supplementation. Repeat MRI 6 weeks after the start of treatment showed resolution of venous thrombosis and moderate improvement of white matter changes.
Conclusions: Homocystinuria has been associated with vascular complications, but recent reports have shown that diffuse white matter changes can also be seen early in the course. This case illustrates that these changes may be seen together and are mostly reversible with treatment. Further research is needed to delineate the cause of changes.