Carvalho Daniel R, Farage Luciano, Martins Bernardo Jaf, Brum Jaime M, Speck-Martins Carlos E, Pratesi Riccardo
SARAH Network of Rehabilitation Hospitals, Brasilia, DF, Brazil.
J Neuroimaging. 2014 Mar-Apr;24(2):155-60. doi: 10.1111/j.1552-6569.2012.00739.x. Epub 2012 Aug 28.
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.
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.
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.
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.
高精氨酸血症（HA）是一种罕见的常染色体隐性代谢紊乱疾病，关于该疾病的神经影像学特征鲜有报道。高氨血症性脑病在HA中并不常见，且HA的临床表现与其他尿素循环障碍不同。本文描述了一系列巴西HA患者的脑部MRI表现及磁共振波谱（MRS）研究结果。
对8例男性和2例女性具有典型HA表型的患者进行脑部MR成像检查。6例患者接受了两次评估。其中6例患者还进行了单体素氢质子磁共振波谱（1H-MRS）检查。
仅1例神经症状较轻的患者MRI图像正常。其他患者均出现不同程度的脑萎缩，3例患者还表现出轻度小脑萎缩症状。MRS检查显示所有患者均无代谢异常。
我们展示了大量HA患者的MRI和MRS检查结果。观察到不同程度的脑萎缩和轻度小脑萎缩，但这些表现并不具有特异性。在这组患者中，MRS检查未发现代谢异常。
