MRS features during encephalopathic crisis period in 11 years old case with GA-1.

Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups. MRI features of the disease are well defined. However, there are limited number of studies concerning advanced neuroimaging findings. We present DWI and MRS findings of an 11 year-old GA-1 patient admitted with an encephalopathic crisis. Diffusion restrictions in bilateral basal ganglia, corpus callosum and periventricular deep white matter were observed. In left occipital periventricular white matter and left basal ganglia, mild increased Cho/Cr and MI/Cr ratios and decreased NAA/Cr ratio were detected. Also inverted double lactate peak (TE: 135 ms) was present at 1.33 ppm in the left basal ganglia. In addition to these findings, a peak at 1.56 ppm above the baseline was seen on both short and long echo-time MRS in left occipital lobe deep white matter which may show accumulation of degradation products of amino acids in the GCDH enzyme deficiency.

Reversible corpus callosum splenial lesion due to steroid therapy.

Reversible corpus callosum splenial (CCS) lesions are rare findings and usually detected incidentally. We presented a case of 15-year-old boy with a diagnoses of nephrotic syndrome. He was referred for neuropsychiatric symptoms following dose reduction on steroid treatment. Brain magnetic resonance imaging (MRI) revealed a focal lesion in the CCS, hyperintense on T2 and FLAIR and hypointense on T1 images with diffusion restriction on apparent diffusion coefficient map. Follow-up MRI 3 weeks later showed complete resolution of the lesion. It was probably result of focal intramyelinic edema due to excytotoxic mechanisms and/or arginine-vasopressin release.