Abstract
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.
MeSH terms
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Biopsy
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Child, Preschool
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Emollients / therapeutic use
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Fatty Liver / pathology*
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Hepatomegaly / diagnostic imaging*
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Humans
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Ichthyosiform Erythroderma, Congenital / diagnosis*
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Ichthyosiform Erythroderma, Congenital / genetics
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Ichthyosiform Erythroderma, Congenital / therapy
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Infant
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / genetics
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Lipid Metabolism, Inborn Errors / therapy
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Male
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Muscular Diseases / diagnosis*
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Muscular Diseases / genetics
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Muscular Diseases / therapy
Supplementary concepts
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Chanarin-Dorfman Syndrome