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

TitleScimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report.
Publication TypeJournal Article
Year of Publication2018
AuthorsSmitthimedhin A, Otero HJ
JournalClin Imaging
Volume49
Pagination128-130
Date Published2018 Feb 01
ISSN1873-4499
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.

DOI10.1016/j.clinimag.2018.01.008
Alternate JournalClin Imaging
PubMed ID29414506