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Homocystinuria, typical brain MRI findings

Authors:

P Iranpour ,

Medical Imaging Research Center, Department of Radiology
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N Karamifar,

Department of Pathology, Shiraz Medical University, Shiraz, Iran
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K As’adi

Medical Imaging Research Center, Department of Radiology
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Abstract

An 8-year-old male presented with recent history of headache, several episodes of convulsion and visual field deficits. Brain MRI revealed multiple T2 hypersignal intensity foci within the left cerebral peduncle, basal ganglia, thalami and left parietal cortex, believed to represent ischemia. There was also iso–slightly hyperintense signal at the site of superior sagittal sinus, replacing the normal flow void pattern, suggestive for dural sinus thrombosis. After gadolinium injection thrombosis of superior sagittal sinus was confirmed (Fig A). Evaluation of orbits disclosed posterior dislocation of the right lens (Fig B). These findings were compatible with the diagnosis of homocystinuria which was later confirmed by laboratory data.

How to Cite: Iranpour P, Karamifar N, As’adi K. Homocystinuria, typical brain MRI findings. Journal of the Belgian Society of Radiology. 2010;93(6):322. DOI: http://doi.org/10.5334/jbr-btr.355
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Published on 15 Jun 2010.
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