THE SJOGREN-LARSSON SYNDROME - AN INBORN ERROR IN THE FATTY ALCOHOL CYCLE

Authors
JOSHI RK SINGH B ALSHAHWAN SA ABANMI A
Citation
Rk. Joshi et al., THE SJOGREN-LARSSON SYNDROME - AN INBORN ERROR IN THE FATTY ALCOHOL CYCLE, Saudi medical journal, 16(1), 1995, pp. 61-63
Citations number
NO
Categorie Soggetti
Medicine, General & Internal
Journal title
Saudi medical journal → ACNP
ISSN journal
03795284
Volume
16
Issue
1
Year of publication
1995
Pages
61 - 63
Database
ISI
SICI code
0379-5284(1995)16:1<61:TSS-AI>2.0.ZU;2-8
Abstract
A 10-year-old Sudanese patient is reported who had the Sjogren-Larsson syndrome presenting with congenital ichthyosis, spastic diplegia and mental retardation. Histology of the skin biopsy confirmed the ichthyo sis to be of the lamellar type. Biochemical assay of the fatty alcohol : NAD oxidoreductase in the cultured skin fibroblasts from the patient showed deficient activity.