Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjo¨gren–Larsson syndrome

syndrome is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty We report the clinical characteristics and the results of molecular studies in 19 SLS patients. Patients 1–17 show the classical triad of severe clinical abnormalities including ichthyosis, mental retardation and spasticity. Most patients were born preterm, and all patients exhibit ocular abnormalities and pruritus. Electro-encephalography shows a slow background activity, without other abnormalities. MRI of the brain shows an arrest of myelination, periventricular signal abnormalities of white matter and mild ventricular enlargement. Cerebral 1 H-MR spectroscopy reveals a characteristic, abnormal lipid peak. The degree of white matter abnormality in the MRIs and the height of the lipid peak in 1 H-MR spectra do not correlate with the

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