Nadia Waheed, Huma Arshad Cheema, Hassan Suleman, Iqra Mushtaq, Zafar Fayyaz.
Chanarin-Dorfman Syndrome.
J Coll Physicians Surg Pak Jan ;26(9):787-9.

Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome.

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