Sjögren-Larsson syndrome (Fatty acid alcohol oxydoreductase deficiency)
Incidence
autosomal recessive inheritance (Very frequent sign)
Clinical Characteristics
The Sjogren-Larsson syndrome is an inborn error of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and spasticity. Patients also suffer from severe pruritus which might be ameliorated by zileuton. Onset of neurologic symptoms often by 30 months. Prevalent in Sweden. It is an autosomal recessive disease which has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing the disease encodes a fatty alcohol dehydrogenase. About half the cases have pigmentary degeneration of the retina. Lesions of the ocular fundus were discussed by Gilbert et al. (1968). Retinal glistening white dots are characteristic. Ecchymoses are present at birth or soon after. Most of the patients never walk. Stature tends to be short. About half the patients have seizures. Clinical improvement occurs with fat restriction and supplementation with medium chain triglycerides.The following signs are seen very frequently: dry skin, ichthyosis, hypertonia/spasticity/rigidity, autosomal recessive inheritance, mental retardation(degree not assessed). Also frequent signs are: kiphosis, seizures ( any type), short stature/dwarfism, increased skin pigmentation diffuse, retinal pigmentary changes peripheral. Occasional signs are: hypotonia, urticaria, microcephaly.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
It is usually a clinical diagnosis. Fatty alcohol:NAD+ oxidoreductase deficiency in leukocytes and fibroblasts