Sjogren-Larsson syndrome: Another differential diagnosis of multiple sclerosis in imaging of white matter diseases

Abstract

Sjogren-Larsson syndrome(SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. MRI finding such as seen in Multiple sclerosis(MS).So this rare syndrome can be another differential diagnosis of MS. Index patient was 34 year-old female who was admitted because of weakness and inability to walk. She had globaldevelopmental delay.Stiffness in lower limbs started in 4 years before,with progressive increase up to the time of presentation.Physical examination showed generalized dryness of skin most prominent on lower limbs with severe pruritus, that is icthyotic lesion. The nail, plams and soles were affected.She had short stature.In neurological examination she revealed mental retardation,spasticity in both lower limbs;brisk deep tendon reflexes and symmetric bilateral extensor plantar respones.Hoffman sign in upper limbs were detected.She had photophobia. EEG showed mild slowing over both hemispheres.MRI of the brian showed diffuse and no symmetrical plaques with high signal intensity on T2 weighted sequence in bilateral deep periventicular white matter and corpus callosum.Some of these lesion were also plumb to ventricular. The hallmark of SLS is demyelination of cerebral white matter and of the corticospinal and vesibulospinal tracts.MRI reveals abnormal high signal intensity on T2 weight and FLAIR sequences especially in periventicular frontal,parietal lobes,corpus callosum and corona radiata.Typically,subcortical white matter U fibers are spared.