ABNORMAL MYELINATION IN PEROXISOMAL ISOLATED DIHYDROXYACETONE-PHOSPHATE ACYLTRANSFERASE DEFICIENCY

The cranial magnetic resonance imaging findings in three siblings with nonrhizomelic chondrodysplasia punctata due to isolated dihydroxyacet onephosphate acyltransferase (DHAP-AT) deficiency are reported, Areas of high signal intensity in a patchy distribution on the T-2-weighted images were detected in the centrum semiovale in the eldest patient (a 6-year-old girl), The white matter of the second child (a 5-year-oId boy) was spared, whereas the youngest sibling (a 2-year-old boy) manif ested very severe white matter abnormalities, DHAP-AT catalyzes the fi rst step in the synthesis of plasmalogens, which are major constituent s of myelin, Defective plasmalogen synthesis may have contributed to a bnormal myelin formation in 2 patients, Because the clinical presentat ion of the child without detectable defect in myelination was similar to that of his siblings, the neurologic signs observed in isolated DHA P-AT deficiency cannot be attributed solely to the disturbances in the myelin formation. (C) 1997 by Elsevier Science Inc.