|Title:||MRI in a case of adult-onset citrullinemia||Authors:||YA-FANG CHEN
Huang, Y C
Liu, H M
Hwu, W L
|Keywords:||Encephalopathy | Hyperammonemia | Magnetic resonance imaging | Urea-cycle disorders||Issue Date:||Oct-2001||Journal Volume:||43||Journal Issue:||10||Source:||Neuroradiology||Abstract:||
A 42-year-old man presented with a history of repeated episodes of consciousness disturbance for 5 years. The MRI showed abnormally high signal intensities on T2-weighted images at bilateral cingulate gyri, temporal lobes and insular regions, mimicking the finding of herpes simplex encephalitis. Hyperammonemia was disclosed. Serial work-up led to the diagnosis of adult-onset citrullinemia, deficiency of argininosuccinate synthetase. The clinical symptoms improved after diet control and medication. Follow-up MRI showed resolution of the abnormal signal intensities. The MRI findings of citrullinemia and other urea-cycle defects might be attributed to hyperammonemic encephalopathy, but the manifestations were varied. Similar distribution of the abnormalities in the MRI could be found in some reported cases and indicates probably vulnerable sites of hyperammonemic brain injury.
anticonvulsive agent; argininosuccinate synthase; arylbutyric acid derivative; lactulose; neomycin; adult; anamnesis; article; brain disease; case report; cingulate gyrus; citrullinemia; consciousness; diet therapy; follow up; hearing impairment; herpes simplex encephalitis; human; hyperammonemia; insula; male; nuclear magnetic resonance imaging; onset age; priority journal; protein restriction; symptomatology; temporal lobe; urea cycle; Adult; Age Factors; Citrullinemia; Humans; Magnetic Resonance Imaging; Male
|Appears in Collections:||醫學院附設醫院 (臺大醫院)|
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