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Jordans' Anomaly As a Red Flag for Neutral Lipid Storage Diseases Publisher Pubmed



Safavi M1 ; Vasei M2 ; Motamed F3
Authors
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Authors Affiliations
  1. 1. Pathology Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Cell Based Therapy Research Center, Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Gastroenterology Department, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Fetal and Pediatric Pathology Published:2022


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. © 2020 Taylor & Francis Group, LLC.