White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis
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Abstract:
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 differential diagnosis of MS.
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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...
full text[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...
full textThe Differential Diagnosis of Multiple Sclerosis
In most cases, the diagnosis of multiple sclerosis (MS) presents few diYculties. Clinical evidence of lesions disseminated in time and space, backed up by magnetic resonance imaging (MRI) and/or spinal fluid changes, commonly leave neither room nor reason for doubt. Occasionally, however, a rogue erythrocyte sedimentation rate (ESR), an atypical (or normal) MRI scan, or an unexpected symptom or...
full textThe differential diagnosis of multiple sclerosis.
OBJECTIVE This article will discuss the diagnosis of multiple sclerosis (MS), with particular attention to differentiating it from other diseases that can mimic it. METHODS We reviewed our own data, as well as the published experience on the differential diagnosis of MS and the most common errors leading to misdiagnosis. RESULTS Psychiatric diseases are mistaken for multiple sclerosis more ...
full textSjogren - 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...
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Journal title
volume 1 issue 3
pages 47- 51
publication date 2015-10
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