Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/74326
Type: Artigo de periódico
Title: Sjogren-Larsson syndrome: biochemical defects and follow up in three cases
Author: Auada, MP
Taube, MBP
Collares, EF
Tanaka, AMU
Cintra, ML
Abstract: Sjogren-Larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle. We report three cases of Sjogren-Larsson syndrome in which the primary biochemical defect was established in two patients (patient 2: 175 pmol/min/mg; patient 3: 103 pmol/min/mg protein enzimatic activity in fibroblasts in skin, while normal controls were 8,860 +/- 1,624, n: 22). A dietary program was proposed: reduced total fatty intake at 30% of total calories, n-3 and n-6 acids (canola oil) as well as unsaturated fatty acids ((R)Milupan milk). Topical keratolytic agents were used too. Good clinical course was observed in one of the patients in whom dietary intervention was started in early infancy. In the other two patients, who started the therapy later (five and three years old), cutaneous symptoms were improved after treatment.
Subject: biochemical defects
diet therapy
ichthyosis
neurologic abnormalities
Sjogren-Larsson syndrome
Country: França
Editor: John Libbey Eurotext Ltd
Rights: fechado
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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