Özet:
In hyperarginenemia, there is a defect in argininase enzyme, which is a catalyzer of urea
cycle. Though the pathogenesis of neuronal damage in hyperargininemia is not clear,
high serum and cerebrospinal fluid arginine levels can be directly related with neuronal
damage. In this study, our aim was to assess brain magnetic resonance images and
magnetic resonance spectroscopy (MRS) patterns of two siblings with hyperarginenemia.
We acquired single voxel MRS from the white matter to show the myelination pattern
and to figure out any abnormal peak of metabolite stored due to enzymatic defect. We
observed mild cerebral and cerebellar atrophy and infarct at bilateral posterior putamen
and insular cortex localization on conventional images and elevated choline/creatine
ratios and abnormal peak at 3.8 ppm, most likely representing arginine deposition. To
the best of our knowledge, this is the first article revealing the brain MRS pattern of
hyperargininemia. We reported the clinical and imaging findings of patients and discuss
the correlation.
