Striatal degeneration and spongy myelinopathy in glutaric acidemia
D Soffer, N Amir, ON Elpeleg, JM Gomori… - Journal of the …, 1992 - Elsevier
The neuropathological findings in a 6 1 2-year-old boy with glutaric acidemia (GA) are
described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral
striatal degeneration and spongy change of the white matter were the salient features in this
case and seem to represent the cardinal pathological features of the disease. Spongy
myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath
along the intraperiod line, as illustrated here for the first time in GA. Based on morphological …
described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral
striatal degeneration and spongy change of the white matter were the salient features in this
case and seem to represent the cardinal pathological features of the disease. Spongy
myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath
along the intraperiod line, as illustrated here for the first time in GA. Based on morphological …