Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
Pediatr Neurol
; 16(3): 232-6, 1997 Apr.
Article
en En
| MEDLINE
| ID: mdl-9165515
ABSTRACT
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.
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Banco de datos:
MEDLINE
Asunto principal:
Aciltransferasas
/
Microcuerpos
/
Vaina de Mielina
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Año:
1997
Tipo del documento:
Article