• Daniel R Carvalho, Luciano Farage, Bernardo Jaf Martins, Jaime M Brum, Carlos E Speck-Martins, and Riccardo Pratesi.
• SARAH Network of Rehabilitation Hospitals, Brasilia, DF, Brazil.
• J Neuroimaging. 2014 Mar 1;24(2):155-60.

Background And PurposeHyperargininemia (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.MethodsBrain 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.ResultsOnly 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.ConclusionsWe 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.Copyright © 2012 by the American Society of Neuroimaging.

30 keywords...

hide…