Sjogren-Larsson syndrome
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چکیده
Sjögren-Larsson syndrome is an inherited neurocutaneous disorder characterized by ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Patients have deficient activity of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene, which results in altered lipid composition of their tissues. In this article, the author discusses new information about the biochemical pathogenesis of Sjögren-Larsson syndrome.
منابع مشابه
White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis
Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...
متن کاملSjögren-Larsson syndrome in a Turkish family.
Sjogren-Larsson syndrome, first described by Sjogren in 1956, and then jointly with Larsson in 1957, is known to occur in different populations throughout the world (Blumel, Watkins, and Eggers, 1958; Richards, 1960; Link and Roldan, 1958; Zaleski, 1962; Heijer and Reed, 1965; Selmanowitz and Porter, 1967). The condition appears to be a clinical and pathological entity characterized by ichthyos...
متن کاملKarl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome
Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
متن کاملA rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that reveal...
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