title: MRI findings in an adolescent with type I citrullinaemia.
abstract: 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.
authors.affiliation: Department of Paediatric Radiology, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, Rome, 00165, Italy. dani.longo@libero.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Longo
authors.forename: Luciana
authors.initials: L
authors.lastname: Delfino
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Genovese
authors.forename: Vittorio
authors.initials: V
authors.lastname: Cannatà
authors.forename: Federica
authors.initials: F
authors.lastname: Deodato
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: Bianca
authors.initials: B
authors.lastname: Goffredo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Fariello
mesh_terms: D000293:Adolescent; D020159:Citrullinemia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male