Indian Journal of Pathology and Microbiology
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Year : 2010  |  Volume : 53  |  Issue : 4  |  Page : 799-801

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Department of Pediatrics, Medical College, 88, College Street, Kolkata, West Bengal, India

Correspondence Address:
Souvik Mitra
618, Block "O," New Alipore, Kolkata - 700 053, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.72098

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Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan's anomaly, which was confirmed by transmission electron microscopy. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis while skin biopsy showed ichthyosis vulgaris. Dorfman-Chanarin syndrome was diagnosed on the basis of clinical and laboratory criteria with certain unreported manifestations. Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis.

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