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Pediatric Radiology
Published in: Pediatric Radiology 8/2010

01-08-2010 | Case Report

Lipoprotein lipase deficiency with visceral xanthomas

Authors: Sabah Servaes, Richard Bellah, Ritu Verma, Bruce Pawel

Published in: Pediatric Radiology | Issue 8/2010

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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.
Literature
1.
Feoli-Fonseca JC, Levy E, Godard M et al (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J Pediatr 133:417–423CrossRefPubMed
2.
Kawashiri MA, Higashikata T, Mizuno M et al (2005) Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL (Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. J Clin Endocrinol Metab 90:6541–6544CrossRefPubMed
3.
Sugandhan S, Khandpur S, Sharma VK (2007) Familial chylomicronemia syndrome. Pediatr Dermatol 24:323–325CrossRefPubMed
4.
Benlian P, De Gennes JL, Foubert L et al (1996) Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 335:848–854CrossRefPubMed
Metadata
Title
Lipoprotein lipase deficiency with visceral xanthomas
Authors
Sabah Servaes
Richard Bellah
Ritu Verma
Bruce Pawel
Publication date
01-08-2010
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 8/2010
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-010-1560-7

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