Elevated 3,6 epoxydicarboxylic acids were absent in the neonatal period but were markedly elevated at 12 weeks of age in an infant with a peroxisomal biogenesis disorder

Abstract

An infant girl, delivered at 37 weeks gestation via planned cesarean section, required an admission to special care nursery (SCN) due to congenital anomalies: central hypotonia, ventriculomegaly, positional talipes, liver dysfunction and malabsorption. It was also thought that the infant had experienced a stroke-like episode. A cranial ultrasound revealed asymmetric bilateral germinolytic cysts in the region of the caudothalamic groove protruding into the anterior lateral ventricles. The underlying cause for the baby's condition remained unclear while in SCN despite numerous investigations including MRI and extensive laboratory testing including non-remarkable urinemetabolic screens on the third and fourth days of life. She was discharged with a diagnosis of cerebral palsy at thirteen days of age. The clinical findings were considered to be likely the result of an intrauterine bleed combined with possible obstruction from the germinolytic cysts causing asymmetric bilateral ventriculomegaly. She represented at 8 weeks of age for further investigation of liver dysfunction and failure to thrive despite adequate calories via naso-gastric feeds. Repeat urinary organic acids at 12 weeks of age showed a marked elevation of urinary 3,6-epoxy dicarboxylic acids, particularly 3,6-epoxytetradecanedioic acid. A peroxisomal biogenesis disorder was confirmed by very long chain fatty acids with elevated C26:C22 and C24:C22 ratios. Conclusion: Increased epoxy-3,6, dicarboxylic acids led to the diagnosis of a peroxisomal disorder in this infant. Our experience in this patient indicates that they can be absent in the neonatal period. Further research is needed to determine at what age they can be reliably detected in infants.L6124789162016-10-07 <br />