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KMID : 0367419940370121757
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Journal of Korean Pediatric Society
1994 Volume.37 No. 12 p.1757 ~ p.1761
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A Case of Sjogren-Larsson Syndrome
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이길준
김종복/이동환/신상만/이상주
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Abstract
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Sjogren-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid
matabolism.
We have experienced a case of Sjogren-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia.
He also has glistening spot on macula area with irregular high voltage slow wave (2-3Hz) on electroencephalography. From Biopsy finding, Lamella ictyosis with acanthosis and hyperkeratosis in epithelium is shown.
He was much improved clinically for skin lesion and developmental status with etretinate supplement.
We report the case with brief review of related literatures.
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KEYWORD
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