Title

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

Year of Publication

2018

Number of Pages

128-130

Date Published

2018 Feb 01

ISSN Number

1873-4499

Abstract

<p>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.</p>

DOI

10.1016/j.clinimag.2018.01.008

Alternate Title

Clin Imaging

PMID

29414506

WATCH THIS PAGE

Subscription is not available for this page.