Clinical and biochemical changes in Egyptian patients with Sjogren Larsson syndrome

ABSTRACT

The Sjogren-Larsson syndrome [SLS] is an inborn error of lipid metabolism, characterized clinically by congenital ichthyosis, mental retardation and spasticity. It is a rare autosomal recessive condition resulting from fatty aldehyde dehydrogenase deficiency, which is involved in lipid synthesis and catabolism. This study included nine patients with SJL, their ages ranged from 2.6 to 12 years [6.4 +/- 2.2]. All the patients were subjected to full clinical examination and biochemical investigations including the estimation of the level of fatty aldehyde dehydrogenase in leucocytes and total cholesterol, triglycerides, low-density lipoproteins [LDL], high-density lipoproteins [HDL], low-density lipoprotein oxidizability and 5-lipooxygenase in plasma. Neurophysiologic examinations including magnetic resonance image [MRI], electro encephalogram [EEG], and visual evoked potential [VEP] were done. The study aims to outline the clinical signs and symptoms together with the biochemical characteristics of SLS. Our findings provide evidence for defective 5-lipoxygenase degradation, fatty aldehyde dehydrogenase deficiency, while lipid profile and low density lipoproteins oxidizability were significantly increased in SLS patients. These findings suggest that fatty aldehyde dehydrogenase plays a major role in detoxification and in the turn over of fatty aldehydes and lipids and offer non-invasive diagnostic tools. Moreover, they provide a powerful rationale for therapeutic trials aimed at inhibiting 5-lipoxygenase synthesis: