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Related Experiment Video

Updated: Mar 14, 2026

RNAi Interference by dsRNA Injection into Drosophila Embryos

RNAi Interference by dsRNA Injection into Drosophila Embryos

Published on: April 11, 2011

Chanarin-Dorfman Syndrome.

Nadia Waheed¹, Huma Arshad Cheema¹, Hassan Suleman¹

¹Department of Pediatric Gastroenterology and Hepatology, Children Hospital and Institute of Child Health, Lahore.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

|September 28, 2016

Summary

Chanarin-Dorfman syndrome, a rare genetic disorder, causes lipid droplets in tissues. This case highlights Jordan

Area of Science:

Genetics and rare diseases
Dermatology
Hepatology

Background:

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder.
Characterized by lipid accumulation in various tissues, notably leukocytes and skin.
Presents with congenital non-bullous ichthyosiform erythroderma.

Observation:

A one-year-old child presented with congenital skin lesions and hepatomegaly.
Liver biopsy revealed steatohepatitis.
Peripheral blood smear showed Jordan's anomaly.

Findings:

Confirmed Jordan's anomaly, a hallmark of Chanarin-Dorfman syndrome.
The case illustrates the clinical presentation of CDS in infancy.
Demonstrates the diagnostic utility of liver biopsy and blood smear analysis.

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Implications:

Highlights the importance of recognizing CDS in infants with erythroderma and hepatomegaly.
Emphasizes the diagnostic significance of Jordan's anomaly.
Contributes to understanding the phenotypic spectrum of Chanarin-Dorfman syndrome.