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A Case of Sjogren-Larsson Syndrome
Journal of the Korean Pediatric Society ; : 1757-1761, 1994.
Artículo en Coreano | WPRIM | ID: wpr-175527
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.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Cuadriplejía / Piel / Testamentos / Biopsia / Alcohol Deshidrogenasa / Etretinato / Parálisis Cerebral / Síndrome de Sjögren-Larsson / Acitretina / Electroencefalografía Límite: Niño / Humanos / Lactante / Masculino Idioma: Coreano Revista: Journal of the Korean Pediatric Society Año: 1994 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Cuadriplejía / Piel / Testamentos / Biopsia / Alcohol Deshidrogenasa / Etretinato / Parálisis Cerebral / Síndrome de Sjögren-Larsson / Acitretina / Electroencefalografía Límite: Niño / Humanos / Lactante / Masculino Idioma: Coreano Revista: Journal of the Korean Pediatric Society Año: 1994 Tipo del documento: Artículo