Volume 1, Issue 3 (Autumn 2015)                   Caspian.J.Neurol.Sci 2015, 1(3): 47-51 | Back to browse issues page

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Nikkhah K, Ghabeli-Juibary A, Zamanian S. White Matter Diseases YES, Multiple Sclerosis NO, Sjogren - Larsson Syndrome: Another Differential Diagnosis of Multiple Sclerosis. Caspian.J.Neurol.Sci. 2015; 1 (3) :47-51
URL: http://cjns.gums.ac.ir/article-1-67-en.html
1- Associate Professor of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran
2- Resident of Neurology, Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran
3- Resident of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran ; nikkhahk@mums.ac.ir
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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.

Key words: Multiple Sclerosis; Sjogren-Larsson Syndrome


Multiple sclerosis (MS) is the most common inflammatory demyelinating disease of the central nervous system in young and middle-age adults, but also affects older people (1,2). Typical features include optic neuritis, motor weakness, numbness, diplopia, nystagmus, dysarthria, tremor, ataxia, impairment of deep sensation and bladder dysfunction and impairment of mental function with typical distribution of white matter lesions (WMLs) (1-3).  
According to the McDonald criteria for MS, the diagnosis requires objective evidence of dissemination in time and space of lesions. This can be very helpful in differentiating them from vascular lesions and other WMLs (1,3). As a consequence, there is an important role for MRI in the diagnosis of MS, since MRI can show multiple lesions (dissemination in space), some of which can be clinically occult, and also can show new lesions on follow up scans (dissemination in time) (1-3). Typical sites for MS lesions are corpus callosum, U-fibers, temporal lobe, brainstem, cerebellum and spinal cord. All or some of these lesions can appear in other white matter diseases. In small vessel disease there may be involvement of the brainstem, but it is usually symmetrical and central, while in MS it is peripheral (1,2).

Sjogren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder and autosomal recessive with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. Less common features are retinal changes, short stature, kyphoscoliosis, preterm birth, seizure and delayed speech (1,2). SLS caused by mutations inthe gene ALDH3A2 for the microsomal enzyme fatty aldehyde dehydrogenase (FALDH) on chromosome 17p11 (1)

Case Presentation

Index patient was a 34 year-old female who was admitted to Ghaem hospital affiliated to Mashhad University of Medical Sciences in November 2013 because of weakness and inability to walk. She was the fourth child of healthy consanguineous parents. She had delivered at preterm (31 weeks of gestation) by normal vaginal delivery. Birth weight, length and head circumference measurements were unknown.

On detailed history, the child attained sitting without support at eighteenth month and walking with 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 (Figure 1A). The nail, palms and soles were affected (Figure 1B, 1C). In skeletal examination she had short stature.


Figure 1: Ichthyotic lesions over lower extremities (A), Ichthyotic lesions associated with involved nails (B), Nails deformity (C)

In neurological examination she revealed mental retardation, spasticity in both lower limbs; brisk deep tendon reflexes and symmetric bilateral extensor plantar response. Hoffman sign in upper limbs were detected. She had photophobia and decreased visual acuity but her fundoscopy was normal. Chest radiography and all routine hematological   investigations were normal.

Electroencephalogram (EEG) showed mild slowing over both hemispheres. CSF analysis was normal. MRI of the brian showed diffuse and nonsymmetrical plaques with high signal intensity on T2 weighted sequence in bilateral deep periventicular white matter and corpus callosum. Some of these lesions were also plumb to the ventricles (Figure 2 ,3 ).


Figure 2: T2 weighted axial MRI image showing bilateral hyperintense lesions in periventicular white matter in Sjogren-Larsson syndrome (A), T2 weighted (B) and Fluid Attenuated Inversion Recovery (FLAIR) axial MRI image (C) showing bilateral hyperintense lesions in periventicular white matter in MS (B).