SOCIAL SECURITY ORGANIZATION,IRAN,MASHHAD
NEUROLOGY

Author Of 2 Presentations

Diagnostic Criteria and Differential Diagnosis Poster Presentation

P0265 - Sjogren-larsson Syndrome:Another Differential Diagnosis of Multiple Sclerosis in Imaging of White Matter Diseases. (ID 970)

Speakers
Presentation Number
P0265
Presentation Topic
Diagnostic Criteria and Differential Diagnosis

Abstract

Background

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.

Objectives

Sjogren-larsson Syndrome:Another Differential Diagnosis of Multiple Sclerosis in Imaging of White Matter Diseases.

Methods

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.

Results

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.

Conclusions

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.

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Diagnostic Criteria and Differential Diagnosis Poster Presentation

P0269 - Vitamin B12 deficiency or MS!? Vitamin B12 deficiency can mimic Multiple Sclerosis. (ID 983)

Speakers
Presentation Number
P0269
Presentation Topic
Diagnostic Criteria and Differential Diagnosis

Abstract

Background

.One of the diseases that is usually considered in differential diagnosis of MS is vitamin B12 deficiency.Differential diagnosis howere maybe difficult because neurological and hematological disorder may develop independently and with various intensity,pernicious anemia may respond to steroid therapy,MRI finding in vitamin B12 deficiency maybe similar to that in MS and multiple sclerosis may coexist with low vitamin B12 level

Objectives

heterogeneous manifestations of MS an incorrect diagnosis is not uncommon.One of them is usually considered in DD of MS is Cobalamin deficiency

Methods

A 43 years old male was referred our neurologic clinic with primary diagnosis of multiple sclerosis.The patient was admitted because of subacute and progressive weakness and parasthesia of lower limbs.He had hypothyroidism in medical story ,but had no remarkable family and social history.No obvious abnormalities were detected in general examination.The neurological symptoms of gait disturbances and paresthesia.In neurological examination he revealed spasticity in both lower limbs ,brisk deep tendon reflexes and symmetric bilateral extensor plantar response and sensory examination showed abnormalities in vibration and position sense.Sensory level was not detected.The patient had marked sensory ataxia.The laboratory tests revealed RBC count:2/19 million/dl ,Hb:9/7,MCV:127,MCH:44,ESR:30,Retic:0/8.Furthermore peripheral blood smear showed macro-ovalocytes and hypersegmeted neutrophils.B12 level:30.Brain MRI was normal,cervical MRI showed long T2 hyper signal lesion at posterior of cord from C2-C7 .

Results

Cobalamin deficiency Pathology is demyelination involving the lower cervical and upper thoracic regions,it eventually involves the entire dorsal columns symmetrically.That is manifest with neurological features .sing of dorsal column involvement .lateral column involvement and spinotalamic tracts .The diagnosis of B12 deficiency is made by a low serum B12 level or elevated levels of metabolites .MRI findings ;vertical segment can be seen at the posterior aspect of spinal cord. On axial images,bilateral paired areas of T2 hyperintensey are seen as inverted V in dorsal columns.Contrast enhancement areas of a normal signal intensity on T2-weighted image in the cerebral white matter.the most important differential diagnosis of Vitamin B12 deficiency is multiple sclerosis.MS plaques in dorsal column are not bilaterally symmetrical and longitudinal exent is less than two vertebral bodies and may show contrast enhancement,finally are seen younger population

Conclusions

Differential diagnosis howere maybe difficult because neurological and hematological disorder may develop independently and with various intensity,pernicious anemia may respond to steroid therapy,MRI finding in vitamin B12 deficiency maybe similar to that in MS and multiple sclerosis may coexist with low vitamin B12 level.

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Presenter Of 1 Presentation

Diagnostic Criteria and Differential Diagnosis Poster Presentation

P0265 - Sjogren-larsson Syndrome:Another Differential Diagnosis of Multiple Sclerosis in Imaging of White Matter Diseases. (ID 970)

Speakers
Presentation Number
P0265
Presentation Topic
Diagnostic Criteria and Differential Diagnosis

Abstract

Background

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.

Objectives

Sjogren-larsson Syndrome:Another Differential Diagnosis of Multiple Sclerosis in Imaging of White Matter Diseases.

Methods

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.

Results

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.

Conclusions

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.

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