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Updated: Jun 16, 2026
06:47
Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
Published on: January 28, 2021
Lipoprotein lipase deficiency with visceral xanthomas
Sabah Servaes1, Richard Bellah, Ritu Verma
1Department of Radiology, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. servaes@email.chop.edu
Pediatric Radiology
|February 10, 2010
Summary
Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder. This case highlights a unique infantile presentation of LLD with jaundice and abdominal masses, including renal xanthomas.
Area of Science:
- Metabolic disorders
- Lipid metabolism
- Pediatric rare diseases
Background:
- Lipoprotein lipase deficiency (LLD) is a rare genetic disorder affecting lipid metabolism.
- Typical LLD presentation includes childhood xanthomas and pancreatitis.
- Infantile LLD is uncommon and often presents differently.
Observation:
- A case of LLD in an infant is presented.
- The infant exhibited jaundice due to a pancreatic head mass.
- Abdominal imaging revealed incidental hyperechoic renal masses.
Findings:
- The pancreatic head mass and renal masses were attributed to xanthomas.
- This constellation of findings represents a unique infantile presentation of LLD.
- The case underscores the diverse clinical manifestations of LLD.
Implications:
- This case expands the understanding of LLD's infantile presentation.
- Early diagnosis of LLD is crucial for managing metabolic complications.
- Further research into atypical LLD presentations is warranted.
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