Aim: Neutral-lipid storage diseases (NLSDs) are a clinically heterogeneous group of non-lysosomal inherited disorders characterized by a cytoplasmic accumulation of lipid droplets (Jordans’ bodies, JBs) in most tissues. A specific and sensitive procedure seems desirable for an unambiguous identification of JBs in blood cells, since MGG-negative spots in granulocytes and monocytes may result from cell inclusions not containing neutral lipids.
Methods: The method employs Oil red O (ORO), Nile red (NR) or, preferably, Bodipy staining, coupled with DAPI staining of nuclei, to clearly visualize by fluorescence microscopy the presence of abundant neutral lipids (triacylglycerols and cholesterol esters) in leukocytes.
Results: A specific and quantitative analysis of JBs fluorescent signal in buffy coats of patients affected by Chanarin-Dorfman syndrome (NLSD with ichthyosis) and NLSD with progressive myopathy.
Conclusion: An improved cytochemical detection of JBs can be easily performed, thus providing a laboratory finding that is critical for the diagnosis of NLSDs.
- Chanarin-Dorfman syndrome
- Fluorescence microscopy
- Lipid droplets
- Lipophilic staining
- Neutral-lipid storage diseases
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