Prenatal diagnosis of zellweger syndrome by fetal MRI: a case report

Abstract

Zellweger Syndrome (ZS) is a rare peroxisomal disorder also referred to as cerebrohepatorenal syndrome. ZS is an autosomal recessive disease often manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidneys. Prenatal diagnosis of this syndrome is infrequent with imaging findings on fetal MRI rarely illustrated in the literature. This case highlights the pivotal role fetal MRI can play in identifying subtle features of the disease that are difficult to visualize on prenatal ultrasound. It is important for pediatric radiologists to be familiar with the most common imaging features of ZS on fetal MRI to expedite the diagnosis and help facilitate appropriate prenatal counseling.

Keywords

• Pediatric
• Fetal MRI
• Neuroradiology
• Pediatric radiology