novel c.4822>T mutation on SPG11 in an Iranian patient marked by hereditary spastic paraparesis and skeletal deformity: an incidental finding or a true association

Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. We report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurological examination showed that he had proximal lower limbs weakness with a positive Gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle was ting, bilateral horizontal nystagmus [direction change], and positive Romberg sign. A novel mutation in SPG11/spatacsin was detected through genetic analysis. Magnetic resonance imaging showed normal whole spine and brain anatomy

White matter diseases yes, multiple sclerosis no, sjogren - larsson syndrome: another differential diagnosis of multiple sclerosis

Sjogren-Larsson Syndrome [SLS] is an inherited autosomal recessr neurocutaneous disorder with congenital ichthyosis, spastic diplegia quadriplegia and mental retardation

We report a case of Sjogren-Larsson Syndrome with clinical profile [ment retardation, ichthyosis, spastic diplegia] and MRI findings such as seen i multiple sclerosis [MS]

So this rare syndrome can be another differenti; diagnosis of MS