Chanarin-dorfman syndrome with multi-system involvement in two siblings

Area of Science:

• Genetics
• Metabolic Disorders
• Dermatology

Background:

• Chanarin-Dorfman syndrome (CDS) is an extremely rare autosomal recessive disorder affecting neutral lipid metabolism.
• It is characterized by congenital ichthyosis and multi-systemic complications.
• Jordan's anomaly, observed as lipid vacuoles in neutrophils, is a key diagnostic indicator in patients with ichthyosiform erythroderma.

Purpose of the Study:

• To present two siblings diagnosed with Chanarin-Dorfman syndrome.
• To highlight the diagnostic process and clinical manifestations of CDS.
• To discuss the implications of genetic findings and treatment outcomes.

Main Methods:

• Clinical evaluation of two siblings presenting with ichthyosis.
• Peripheral blood smear analysis for Jordan's anomaly.
• Genetic analysis to identify mutations associated with CDS.
• Dietary intervention with a low-fat, high-carbohydrate diet supplemented with medium-chain fatty acids.

Main Results:

• Both siblings exhibited ichthyosis, hepatomegaly, cataract, growth retardation, and sensorineural hearing loss.
• Peripheral blood smears revealed lipid vacuoles in neutrophils (Jordan's anomaly).
• Genetic testing confirmed homozygous N209X mutation in both patients.
• No clinical improvement was observed after six months of dietary management.

Conclusions:

• Chanarin-Dorfman syndrome, though rare, should be considered in congenital ichthyosis cases, particularly with extracutaneous involvement.
• Diagnosis relies on the straightforward peripheral blood smear test for Jordan's anomaly.
• The N209X mutation is implicated in the presented cases of CDS.
• Current dietary management showed no observed improvement in these patients over a 6-month period.