Sjogren-Larsson syndrome is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.So this rare syndrome can be another differential diagnosis of MS.
Sjogren-larsson Syndrome:Another Differential Diagnosis of Multiple Sclerosis in Imaging of White Matter Diseases.
Case presentation:
Index patient was 34 year-old female who was admitted because of weakness and inability to walk., the child attained sitting without support at second year of age.She had global developmental 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.She had photophobia and decreased visual acuity but her fundoscopy was normal. EEG showed mild slowing over both hemispheres.CSF analysis was normal.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.
Sjogren_larsson is a recessively inherited neurocutaneous disorder that is Caused by mutatiation in ALDH3A2 gene .The cutaneous symptoms are in form of ichthyosis which is a generalized hyperkeratosis of the trunk,joints,and the dorsal asepect of the hands and the feet.Pruritus is a prominent feature that is not found is other of ichthyotic skin disorders.The occurrence of glistening clots on funduscopic examination strongly suggestes SLS.Spasicity impedes motor development and prevents many patients from mild to modrate severity.Most cases with SLS have learning disability and speech disorders.The hallmark of SLS is demyelination of the cerebral white matter and of the corticospinal and vestibulospinal tracts.MRI reveals abnormal high signal intensity on T2 weighted and FLAIR sequences especially in periventicular frontal,parietal lobes,corpus callosum and corona radiata are spared.
The diagnosis of SLS should be cosidered in a neonate or infant with congenital ichthyosis and neurological features.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.