“…Our cUS findings in the infants with COX deficiency and complex disorders are consistent with those in the literature. 10,13,14,17,26 Most infants with peroxisomal biogenesis disorders had multiple GLCs and ventricular dilation, often with abnormal peri-Sylvian cortical folding and LSV. These findings were apparent on cUS and consistent with case reports, 15,19,24 contributing to an early diagnosis.…”