Neuroimaging findings in hyperargininemia.
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.
Güngör
Serdal
S
Inonu University, Faculty of Medicine, Department of Pediatrics, Malatya, Turkey. gungorserdal@yahoo.com
Akinci
Ayşehan
A
Firat
Ahmet Kemal
AK
Tabel
Yilmaz
Y
Alkan
Alpay
A
D001120:Arginine / Q000378:metabolism; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001284:Atrophy; D020144:Basal Ganglia Cerebrovascular Disease / Q000175:diagnosis / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003241:Consanguinity; D003401:Creatine / Q000378:metabolism; D004292:Dominance, Cerebral / Q000502:physiology; D004734:Energy Metabolism / Q000502:physiology*; D006801:Humans; D020162:Hyperargininemia / Q000175:diagnosis*; D007091:Image Processing, Computer-Assisted; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D011699:Putamen / Q000473:pathology
D001224:Aspartic Acid; D001120:Arginine; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline