On imaging there is confluent increased T2 signal of the cerebral white matter. MRS shows highly elevated abnormal peaks (~3.75 ppm) that were identified as representing pentitols (ribitol and arabitol).
Reference:
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2. Huck JHJ et al. Ribose-5-Phosphate isomerase deficiency: New inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Jum Genet. 74:745-751, 2004