Literature DB >> 20143060

Lipoprotein lipase deficiency with visceral xanthomas.

Sabah Servaes1, Richard Bellah, Ritu Verma, Bruce Pawel.   

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.

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Year:  2010        PMID： 20143060     DOI： 10.1007/s00247-010-1560-7

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  4 in total

1.  Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

Authors:  P Benlian; J L De Gennes; L Foubert; H Zhang; S E Gagné; M Hayden
Journal:  N Engl J Med       Date:  1996-09-19       Impact factor: 91.245

2.  Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.

Authors:  Masa-aki Kawashiri; Toshinori Higashikata; Mihoko Mizuno; Mutsuko Takata; Shoji Katsuda; Kenji Miwa; Tsuyoshi Nozue; Atsushi Nohara; Akihiro Inazu; Junji Kobayashi; Junji Koizumi; Hiroshi Mabuchi
Journal:  J Clin Endocrinol Metab       Date:  2005-09-20       Impact factor: 5.958

3.  Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.

Authors:  J C Feoli-Fonseca; E Lévy; M Godard; M Lambert
Journal:  J Pediatr       Date:  1998-09       Impact factor: 4.406

4.  Familial chylomicronemia syndrome.

Authors:  Selvendran Sugandhan; Sujay Khandpur; Vinod K Sharma
Journal:  Pediatr Dermatol       Date:  2007 May-Jun       Impact factor: 1.588
  4 in total

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