A Case of Sjogren-Larsson Syndrome.
- Author:
Joo Heung LEE
;
Jeung LEE
;
Gwang Seong CHOI
;
Sang Wahn KOO
;
Young Keun KIM
- Publication Type:Case Report
- Keywords:
Sjogren-Larsson syndrome;
Autosomal recessive neurocutaneous disorder;
Fatty aldehyde deficiency
- MeSH:
Aldehyde Dehydrogenase;
Cerebral Palsy;
Child;
Humans;
Ichthyosis;
Intellectual Disability;
Macular Degeneration;
Male;
Muscle Spasticity;
Neurocutaneous Syndromes;
Rehabilitation;
Rhizotomy;
Sjogren-Larsson Syndrome*
- From:Korean Journal of Dermatology
1998;36(6):1078-1082
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Sjogren-Larsson syndrome is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase. It consists of ichthyosis, spastic di- or quardriplegia and mental retardation. We report a case of a 9-year-old boy who was suspected to have Sjogren-Larsson syndrome. He had congenital ichthyosis, spastic diplegia and mental retardation. In addition, there was macular degeneration on the fundus. His neurological symptoms were improved after selective posterior rhizotomy and rehabilitation therapy. However, the dermatological problem did not subside with conservative treatment.
