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