학술논문
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
Document Type
Case Study
Source
Subject
*LIPIDOSES
*ICHTHYOSIS
*LIVER enzymes
*EOSINOPHILS
*BASOPHILS
*GRANULOCYTES
*
*
*
*
*
Language
ISSN
1551-3815
Abstract
Background: Jordans' anomaly is characterized by lipid vacuoles in granulocytes which are observed in neutral lipid storage diseases like Chanarin-Dorfman syndrome. Case report: This six-year-old boy had skin ichthyosis, elevated liver enzymes, and prominent vacuoles in neutrophils, eosinophils, monocytes, and basophils (Jordans' anomaly), leading to the diagnosis of Chanarin-Dorfman Syndrome, which was successfully treated with medium-chain triglyceride oil. Conclusion: Jordans' anomaly is a red flag for the diagnosis of neutral lipid storage diseases especially in patients with ichthyosis and elevated liver enzymes. [ABSTRACT FROM AUTHOR]