title: Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.
abstract: OBJECTIVE
  Hyperargininemia (HA) is a rare autosomal recessive metabolic disorder and the neuroimaging features of this disease have seldom been reported. Hyperammonemic encephalopathy is uncommon in HA, and the clinical presentation of HA is distinct from other urea cycle disorders. This paper describes the brain MRI findings and a magnetic resonance spectroscopy (MRS) study of a series of Brazilian HA patients.
  
  
  METHODS
  Brain MR images were obtained in eight male and two female patients with the classic HA phenotype. Six patients were evaluated twice. Single-voxel (1)H-MRS was also performed in six of the patients.
  
  
  RESULTS
  Only 1 patient, with less severe neurological symptoms, had normal MRI images. A variable degree of cerebral atrophy was noted in the other patients, and 3 patients also presented mild symptoms of cerebellar atrophy. MRS indicated no metabolic abnormalities in any patient.
  
  
  CONCLUSIONS
  We present the MRI and MRS findings of a large series of HA patients. Variable degrees of brain atrophy and mild cerebellar atrophy were observed, and these findings were not specific. No metabolic abnormality was observed using MRS in this series of patients.
authors.affiliation: SARAH Network of Rehabilitation Hospitals, Brasilia, DF, Brazil.
authors.forename: Daniel R
authors.initials: DR
authors.lastname: Carvalho
authors.forename: Luciano
authors.initials: L
authors.lastname: Farage
authors.forename: Bernardo Jaf
authors.initials: BJ
authors.lastname: Martins
authors.forename: Jaime M
authors.initials: JM
authors.lastname: Brum
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Speck-Martins
authors.forename: Riccardo
authors.initials: R
authors.lastname: Pratesi
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000378:metabolism*; D001284:Atrophy; D015415:Biomarkers / Q000378:metabolism; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D020162:Hyperargininemia / Q000175:diagnosis* / Q000378:metabolism*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D066244:Proton Magnetic Resonance Spectroscopy / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D015415:Biomarkers; D001120:Arginine