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- Title
Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia.
- Authors
Carvalho, Daniel R; Farage, Luciano; Martins, Bernardo JAF; Brum, Jaime M; Speck‐Martins, Carlos E; Pratesi, Riccardo
- Abstract
ABSTRACT BACKGROUND AND PURPOSE 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 1H-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.
- Subjects
BRAIN imaging; MAGNETIC resonance imaging; NUCLEAR magnetic resonance spectroscopy; CEREBRAL atrophy; BRAIN abnormalities; ARGINASE; CHILDHOOD epilepsy
- Publication
Journal of Neuroimaging, 2014, Vol 24, Issue 2, p155
- ISSN
1051-2284
- Publication type
Article
- DOI
10.1111/j.1552-6569.2012.00739.x