A Case of Neonatal Adrenoleukodystrophy Presented with Neonatal Seizure / 대한소아신경학회지

ABSTRACT

Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro reflexes, diminished deep tendon reflexes, neonatal seizure refractory to antiepileptic drugs, progressive hepatomegaly, and mild or absent craniofacial dysmorphism. In the peroxisomal biogenesis disorders, whose basic defect are the incapabilities to import one or more proteins into the organelle, include Zellweger syndrome(ZS), NALD, and infantile Refsum disease(IRD). These are now thought to represent a continuous spectrum of disease severity, ZS the most severe, IRD the least severe, and NALD intermediate. Furthermore, their biochemistry and microscopic pathology are nearly identical. The biochemical abnormalities of NALD are the elevated levels of very long chain fatty acid(VLCFA), phytanic acid, pristanic acid, pipecolic acid in plasma, cultured skin fibroblasts, and reduced plasmalogen contents in erythrocytes. There are no effective treatments until now. We experienced an one day old neonate with hypotonia and seizure, who was diagnosed as NALD by elevated plasma VLCFA. So we report the case with a brief review of literature.