Sjogren-Larsson syndrome: Another differential diagnosis of multiple sclerosis in imaging of white matter diseases
نویسندگان
چکیده
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 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 کاملSjogren - 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 کامل[Diagnosis and differential diagnosis in multiple sclerosis].
The diagnosis of multiple sclerosis (MS) relies on the occurrence of characteristic symptoms, on the patient's history and on the correct interpretation of nowadays very sensitive but not very specific auxillary examinations. This paper reviews the diagnostic criteria and typical signs and symptoms of the disease. The significance of cerebrospinal fluid (CSF) analysis, magnetic resonance imagin...
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ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2019
ISSN: 0022-510X
DOI: 10.1016/j.jns.2019.10.1433