A Case of Sjögren-Larsson Syndrome.
10.5021/ad.1995.7.1.71
- Author:
Hye Jin LEE
;
Duck Taik SHIM
;
Young Keun KIM
;
So Young JIN
- Publication Type:Case Report
- Keywords:
Sjögren-Larsson syndrome
- MeSH:
Cerebral Palsy;
Humans;
Ichthyosis;
Intellectual Disability;
Kyphosis;
Metabolism;
Retina;
Sjogren-Larsson Syndrome*
- From:Annals of Dermatology
1995;7(1):71-74
- CountryRepublic of Korea
- Language:English
-
Abstract:
Sjögren-Larsson syndrome(SLS) is a rare hereditable disease characterized by congenital ichthyosis, spastic diplegia and mental retardation. Along with the typical triad of symptoms, many patients with this disease have short stature, kyphosis and glistening dots in the retina of the eye. The pathogenesism is unknown but recent studies suggest that SLS might be, at least in part, a disorder of fatty acid metabolism. We describe a patient with a pathognomonic finding in the fundus and with the classic features of SLS.
