Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report

Abstract

Zellweger syndrome is the most severe form of a group of autosomal recessive disorders with defective peroxisomes. We report a case of Zellweger syndrome in a newborn baby, which was first suspected by the presence of scimitar-like patella seen on skeletal survey. The subsequent brain MRI showed germinolytic cysts and polymicrogyria, which furthered the suspicion. Laboratory and genetic results confirmed the diagnosis. To date, there are a limited number of case reports of this rare disease. We emphasize skeletal findings that can lead to targeted genetic and laboratory testing and hence earlier diagnosis.

Keywords: Scimitar patella; Skeletal survey; Stippled calcifications; Zellweger syndrome.