Lipoprotein lipase deficiency with visceral xanthomas.

Abstract:

:Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Servaes S,Bellah R,Verma R,Pawel B

doi

10.1007/s00247-010-1560-7

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

1440-2

issue

8

eissn

0301-0449

issn

1432-1998

journal_volume

40

pub_type

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