A Case of Sjogren-Larsson Syndrome.
- Author:
Kil Joon LEE
;
Jong Bock KIM
;
Dong Hwan LEE
;
Sang Man SHIN
;
Sang Jhoo LEE
- Publication Type:Case Report
- MeSH:
Acitretin;
Alcohol Dehydrogenase;
Biopsy;
Cerebral Palsy;
Child;
Electroencephalography;
Epithelium;
Etretinate;
Humans;
Infant;
Intellectual Disability;
Male;
Quadriplegia;
Sjogren-Larsson Syndrome*;
Skin;
Wills
- From:Journal of the Korean Pediatric Society
1994;37(12):1757-1761
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
