What is the role of imaging studies in the diagnosis of homocystinuria and homocysteinemia?

Updated: Jul 27, 2018
  • Author: Pitchaiah Mandava, MD, PhD; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Answer

On routine imaging studies, bony abnormalities including osteoporosis may be readily apparent.

A CT scan of the head is obtained routinely in patients presenting with acute stroke. Where available, MRI with newer techniques such as diffusion and perfusion imaging and MR angiography also may be used in the acute setting.

MRI [9] and CT findings with either homocystinuria or classic homocysteinemia may show both large-vessel or lacunar strokes, potentially in any vascular distribution.


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