Presentation
History of MTHFR gene positive with pulmonary embolism. Found down at home. Only withdrawing to pain on neurologic exam.
Patient Data
Restricted diffusion is seen within the putamen bilaterally, more prominent on the right than the left. There are also scattered foci of restricted diffusion along the cortex of both cerebral hemispheres most pronounced in the occipital/temporal junctions.
There is increased FLAIR signal and swelling corresponding to the bilateral basal ganglia, as well the medial aspect of both occipital lobes.
Case Discussion
This is a case of a young, hypercoagulable woman with the MTHMR mutation (results in enzymatic deficiency of homocysteine metabolism which in turn leads to a prothrombotic state, especially with some polymorphisms1) who experienced a pulmonary embolism which lead to an anoxic brain injury.
Co-author:
Rushali Kothari
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