Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
The cranial magnetic resonance imaging findings in three siblings with nonrhizomelic chondrodysplasia punctata due to isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency are reported. Areas of high signal intensity in a patchy distribution on the T2-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-old boy) was spared, whereas the youngest sibling (a 2-year-old boy) manifested very severe white matter abnormalities. DHAP-AT catalyzes the first step in the synthesis of plasmalogens, which are major constituents of myelin. Defective plasmalogen synthesis may have contributed to abnormal myelin formation in 2 patients. Because the clinical presentation of the child without detectable defect in myelination was similar to that of his siblings, the neurologic signs observed in isolated DHAP-AT deficiency cannot be attributed solely to the disturbances in the myelin formation.
Sztriha
L S
LS
Department of Pediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.
Nork
M P
MP
Abdulrazzaq
Y M
YM
al-Gazali
L I
LI
Bakalinova
D B
DB
D000217:Acyltransferases / Q000172:deficiency*; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000209:etiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008830:Microbodies / Q000201:enzymology*; D009186:Myelin Sheath / Q000473:pathology*; D011859:Radiography
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase