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Neuroradiologic findings in glutaric aciduria type II
J Takanashi1, K Fujii, K Sugita
1Department of Pediatrics, Faculty of Medicine, Chiba University, Japan.
Pediatric Neurology
|March 19, 1999
Abstract:
The authors report a 3-year-old male with glutaric aciduria type II, whose magnetic resonance imaging studies revealed agenesis of the cerebellar vermis and hypoplastic temporal lobes. Proton magnetic resonance spectroscopy in the parietal white matter revealed a markedly increased choline/creatine ratio, suggesting a demyelinating process. Gas chromatographic analysis of urinary organic acids should be studied in any patient with agenesis of the cerebellar vermis and cystic renal disease to exclude glutaric aciduria type II.