MRI Research Today is a free monthly online journal that collates and summarizes the latest research about MRI, including details on magnetic resonance imaging, neuroimaging, brain tumors.

MRI findings in an adolescent with type I citrullinaemia.

Longo D, Delfino L, Genovese E, Cannatà V, Deodato F, Dionisi-Vici C, Goffredo B, Fariello G

Department of Paediatric Radiology, Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, Rome, 00165, Italy, dani.longo@libero.it.

Citrullinaemia is a rare inborn error of urea cycle metabolism. We describe the MRI findings in a 16-year-old boy with type I citrullinaemia during an episode of acute hyperammonaemic encephalopathy and compare them to his previous follow-up MRI studies. MRI revealed bilateral high signal intensity in the cingulate, perirolandic, parietal and temporoinsular cortex, the subcortical white matter and left thalamus. Diffusion-weighted imaging showed high signal intensity and low apparent diffusion coefficient values in the frontoparietal lobes. To our knowledge, MRI findings in an adolescent with type I citrullinaemia have not been previously reported. Since our patient's neuroradiological findings showed greater similarity to type II citrullinaemia, we think his brain injury during this acute episode was probably age-related and independent of the type of citrullinaemia.

Published 8 January 2008 in Pediatr Radiol, 38(2): 237-240.
Full-text of this article is available online (may require subscription).

© 2005-2008 MRI Research Today. All Rights Reserved.