Sjogren-Larsson syndrome: A rare neurocutaneous disorder
نویسندگان
چکیده
منابع مشابه
Sjogren - Larsson Syndrome
Sjogren-Larsson syndrome (SLS) is an inherited disorder associated with impaired fatty alcohol oxidation due to deficient activity of fatty alcohol:NAD+ oxidoreductase (FAO). FAO is a complex enzyme which consists of two separate proteins that sequentially catalyze the oxidation of fatty alcohol to fatty aldehyde and fatty acid. To determine which enzymatic component of FAO was deficient in SLS...
متن کاملSjogren-Larsson syndrome
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 p...
متن کاملWhite 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 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...
متن کاملwhite 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...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2016
ISSN: 1817-1745
DOI: 10.4103/1817-1745.181267