Defect of peroxisomal beta oxidation with polymicrogyria, epilepsy and myopathy in a newborn

Case report: A female newborn, second child of healthy, non consanguineous parents presented after delivery with generalized muscle weakness, weak sucking and hypomotoric, epileptic seizures with cyanosis. Dysmorphic features with high forehead, large fontanel, long philtrum, hypertelorism and retrognathy were present. Metabolic investigations showed elevation of various very long chain fatty acids (VLCFA) (elevated: C26:0 (4.31µg/ml), ratio C24:0/C22:0 (2.02), ratio C26:0/C22:0 (0.617), pipecolic acid (17µmol/l); normal range: C24:0 and phytanic acid; decreased: C22:0 (6.99µg/ml); synthesis of plasmalogen in erythrocytes normal) and no relevant hepatopathy. On MRI polymicrogyria in the perirolandic and perisylvic region was found. In automated brain stem audiometry no potentials could be evoked, suggesting hearing loss. EEG showed multifocal epileptic discharges.

Treatment with phenobarbital and vigabatrin abolished seizures within 4 weeks. Nasogastric tube feeding was necessary until the age of 8 weeks, when the child showed stronger sucking reflex, increasing muscle power and slow progress in motor development.

Discussion: A patient with elevated VLCFA with signs of deficient beta oxidation of the peroxisomes is reported. Biochemical analysis suggests a deficiency of D-bifunctional protein (DBP). Compared to the classical Zellweger disease patients with DBP deficiency present with a mild clinical course with survival beyond the age of 2 and some developmental milestones. Further characterisation is possible by analysis of fibroblast culture, which is presently done in our patient.