Abstract:

Aim: Zellweger syndrome (ZS), also known as cerebrohepatorenal syndrome, is a rare and severe peroxisomal biogenesis disorder that involves multiple organ systems. The affected subjects are mostly symptomatic in the neonatal or early infantile period. Bedside ultrasonography (US) is a safe and repeatable method that allows combined imaging of the abdomen and head in neonates and infants. This study aimed to investigate the spectrum of early abnormalities in bedside US examinations of the head and abdomen in a population of children with ZS. Materials and Methods: US images of the head and abdomen in nine children diagnosed with ZS syndrome were analyzed retrospectively to identify the characteristics and frequencies of abnormal findings. Results: Subependymal germinolytic cysts were the most frequent finding in head USs. Mild-to-moderate ventricular dilation, lenticulostriate vasculopathy, and thinning of the corpus callosum were among the associated findings. The kidneys showed increased cortical echogenicity and preservation of the medullar hypoechogenicity in all; 8 out of 9 patients had subcapsular cysts and 7 had small and irregular medullae. Increased periportal echogenicity, gallbladder edema, and biliary sludge were identified in 4 patients. One patient had a cystic pancreatic lesion that had not been previously reported in ZS. Conclusion: The cerebral findings of ZS are well-defined in magnetic resonance imaging, however, combined ultrasonographic findings of the cerebrum and abdomen in this syndrome are rarely reported. As a safe, readily available, and repeatable imaging method, bedside US can be used in neonates and infants to identify the multisystem findings of ZS.

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