Chylomicron retention disease - The role of ultrastructural examination in differential diagnosis

R. Boldrini, R. Biselli, C. Bosman

Research output: Contribution to journalArticlepeer-review


Three children with malabsorption presumably caused by celiac disease had undergone jejunal biopsy. While a histological examination revealed microvacuolization of enterocytes in the absence of celiac lesions, an ultrastructural investigation disclosed numerous chylomicrons and larger lipid vacuoles inside the cytoplasm of enterocytes, mostly in the supranuclear region. No chylomicrons were evident in the interstitium between adjacent enterocytes, as observed in normal subjects. These ultrastructural findings allowed for the diagnosis of "Chylomicron retention disease" (CRD). CRD was described for the first time by Anderson in 1961, and it is included in the group of disorders of biosynthesis and secretion of B apolipoproteins (apoB). This disease, in particular, appears to result from a specific defect involving the secretion of lipoproteins containing apoB-48 from the gut, with the complete absence of post prandial chylomicrons in the sera. CRD needs to be recognized early because of its adverse effects on growth and its potential for neurological and ocular complications, and the ultrastructural identification of chylomicronsize lipid droplets clustered in the enterocytes, with the absence of fat outside the cells, represents the gold standard to identify CRD, together with clinical aspects and laboratory measurements. In this study, we describe the histological and ultrastructural aspects observed in three pediatric cases of CRD.

Original languageEnglish
Pages (from-to)753-757
Number of pages5
JournalPathology Research and Practice
Issue number11
Publication statusPublished - 2001


  • Apolipoprotein B
  • Chlyomicron retention disease
  • Fat-filled enterocytes
  • Hypobetalipoproteinemia
  • Malabsorption

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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