Involvement Of Corpus Callosum Research Articles

Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.

Multiple sclerosis (MS) has been proposed as a possible differential diagnosis for Fabry disease (FD). The aim of this work was to evaluate the involvement of corpus callosum (CC) on MR images and its possible role as a radiological sign to differentiate between FD and MS. In this multicentric study, we retrospectively evaluated the presence of white matter lesions (WMLs) on the FLAIR images of 104 patients with FD and 117 patients with MS. The incidence of CC-WML was assessed in the two groups and also in a subgroup of 37 FD patients showing neurological symptoms. WMLs were detected in 50 of 104 FD patients (48.1%) and in all MS patients. However, a lesion in the CC was detected in only 3 FD patients (2.9%) and in 106 MS patients (90.6%). In the FD subgroup with neurological symptoms, WMLs were present in 26 of 37 patients (70.3%), with two subjects (5.4%) showing a definite callosal lesion. FD patients have a very low incidence of CC involvement on conventional MR images compared to MS, independently from the clinical presentation and the overall degree of WM involvement. Evaluating the presence of CC lesions on brain MR scans can be used as a radiological sign for a differential diagnosis between MS and FD, rapidly addressing the physician toward a correct diagnosis and subsequent treatment options.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Objective:To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation–related leukodystrophy (AARS2-L), and highlight key differentiating features.Methods:ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review. The phenotypic features were determined by combining published cases with those from our database.Results:A combined total of 74 cases of ALSP and 10 cases of AARS2-L with neuroimaging data were identified. The mean age at onset was 42 years in ALSP and 26 years in AARS2-L. Cognitive and motor symptoms were the most common symptoms overall in both. Ovarian failure was exclusive to AARS2-L, present in all known female cases. Both ALSP and AARS2-L showed a confluent, asymmetric, predominantly frontoparietal, periventricular pattern of white matter disease with subcortical U-fiber sparing; pyramidal tract and corpus callosum involvement; and diffusion changes in the white matter which we have termed “deep white matter diffusion dots.” Central atrophy and corpus callosal thinning were prominent in ALSP and disproportionately mild in AARS2-L when present. ALSP also occasionally showed ventricular abnormalities and calcifications in the frontal periventricular white matter, features not seen in AARS2-L. AARS2-L demonstrates white matter rarefaction which suppresses on fluid-attenuated inversion recovery MRI sequences, a feature not seen in ALSP.Conclusions:ALSP and AARS2-L share similar clinical, imaging, and pathologic characteristics with key differentiating features that we have highlighted.

Predictors of poor outcome in patients with posterior reversible encephalopathy syndrome

Purpose: Posterior reversible encephalopathy syndrome (PRES) is an acute neurotoxic syndrome that, although characteristically reversible, can be fatal or result in long-term disability in a subset of patients. Our aim was to identify factors associated with poor discharge outcome in PRES patients. Materials and methods: We retrospectively reviewed the clinical and radiological records of all patients with PRES admitted at our tertiary care medical center from 2007 to 2014. They were divided based their modified Rankin Score at discharge and compared for their baseline variables, clinical, laboratory and imaging features. Poor outcome was defined by a modified Rankin scale 2–6 and was subdivided based on the primary mechanism that led to poor outcome. Results: Out of 100 PRES subjects, 36% had poor discharge outcomes. Factors associated with poor outcomes on univariate analysis were history of diabetes mellitus, coma, high Charlson comorbidity index, post-transplantation, autoimmune condition, lack of systolic or diastolic hypertension, elevated blood urea nitrogen and involvement of the corpus callosum. On multivariate analysis, only prior diabetes mellitus odd ratio (OR) = 6.8 (95% CI 1.1–42.1, p = 0.04), corpus callosum involvement (OR = 11.7; 95% CI 2.4–57.4, p = 0.00) were associated with poor outcome. Poor outcome also correlated with increased length of hospital stay (OR = 7.9; 95% CI 1.3–49.7, p = 0.03). Conclusion: Large prospective studies incorporating serial blood glucose values and advanced imaging studies are required to validate these findings.

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed. Nineteen individuals with succinate dehydrogenase deficiency-related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board-approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands). All individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter with sparing of the U fibers, the corpus callosum with sparing of the outer blades, the basis pontis, middle cerebellar peduncles, and cerebellar white matter, and elevated succinate on magnetic resonance spectroscopy (MRS). The thalamus was involved in most studies, with a predilection for the anterior nucleus, pulvinar, and geniculate bodies. Clinically, infantile onset neurological regression with partial recovery and subsequent stabilization was typical. All individuals had mutations in SDHA, SDHB, or SDHAF1, or proven biochemical defect. Succinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with advanced sequencing technologies allows noninvasive diagnostic confirmation. The MRI pattern is characterized by cerebral hemispheric white matter abnormalities with sparing of the U fibers, corpus callosum involvement with sparing of the outer blades, and involvement of corticospinal tracts, thalami, and spinal cord. In individuals with infantile regression and this pattern of MRI abnormalities, the differential diagnosis should include succinate dehydrogenase deficiency, in particular if MRS shows elevated succinate.

Marchiafava-Bignami Disease: A Less Known Neurological Complication of Alcoholism

Marchiafava-Bignami disease (MBD) is a disorder associated with chronic alcohol consumption and characterized by demyelination and necrosis of the corpus callosum. Patients may have reduced consciousness, psychotic symptoms, apathy, hemiparesis, ataxia and coma. Although some cases of recovery have been reported, the outcome is poor, with disability or dead. We reported a case of a 56-year-old woman with chronic alcoholism admitted to our hospital with impaired consciousness and a history of gait disturbance. On examination, she was in a coma, with increased muscle tone and left arm paresis. Laboratory studies showed a folic acid deficiency and the CT scan was normal. Magnetic resonance imaging revealed lesions in periventricular white matter and the entire corpus callosum with restriction of water diffusion consistent with the diagnosis of MBD. Despite treatment with B vitamin complex, the patient died. Coma and radiological involvement of the entire corpus callosum are compatible with type A MBD and associated with poor prognosis. Although being a rare alcoholism complication, it should not be forgotten since an early diagnosis and prompt supportive therapy may enable a better outcome. J Med Cases. 2016;7(5):171-173 doi: http://dx.doi.org/10.14740/jmc2477w

Unusual case of cerebral venous thrombosis

Cerebral venous thrombosis (CVT) represents less than 5% of all strokes. Isolated cerebral deep venous thrombosis is very rare. Most patients present with rapid neurological deterioration. Early diagnosis and treatment may avoid potentially devastating consequences. Thrombosis of the cerebral deep venous system presenting with bilateral thalamic and basal ganglia infarction or oedema is not uncommon. We present a case of CVT with extensive involvement of basal ganglia, thalami and corpus callosum.

Corpus callosum involvement and postoperative outcomes of patients with gliomas.

Corpus callosum involvement is associated with poorer survival in high grade glioma (HGG), but the prognostic value in low grade glioma (LGG) is unclear. To determine the prognostic impact of corpus callosum involvement on progression free survival (PFS) and overall survival (OS) in HGG and LGG, the records of 233 glioma patients treated from 2008 to 2011 were retrospectively reviewed. Preoperative magnetic resonance (MR) images were used to identify corpus callosum involvement. Age, sex, preoperative Karnofsky performance scale, postoperative Eastern Cooperative Oncology Group (ECOG) score and extent of resection (EOR) were evaluated with respect to PFS and OS. The incidence of corpus callosum involvement was similar among HGG (14%) and LGG (14.5%). Univariate analysis revealed that PFS and OS were significantly shorter in both WHO grade II and grade IV glioma with corpus callosum involvement (both, p<0.05). Multivariate analysis showed that grade II glioma with corpus callosum involvement have shorter PFS (p=0.03), while EOR, instead of corpus callosum involvement (p=0.16), was an independent factor associated with PFS in grade IV glioma (p<0.05). Corpus callosum involvement was no longer significantly associated with OS after adjusting age, gender, EOR, preoperative and postoperative performance status (p=0.16, 0.17 and 0.56 in grade II, III and IV gliomas, respectively). Corpus callosum involvement happened in both LGG and HGG, and is associated with lower EOR and higher postoperative ECOG score both in LGG and HGG. Corpus callosum involvement tends to be an independent prognostic factor for PFS in LGG, but not for OS in LGG or in HGG.

Clinical characteristics and follow-up of pediatric patients with neuromyelitis optica and neuromyelitis optica spectrum disorders

To analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD). A retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014. Median age at onset was 8.9 years (range 0.8-13.8 years). Seven cases were female and three were male. Median disease duration was 1.5 months (range 1-18.5 months). Eight patients fulfilled diagnostic criteria for NMO and two patients fulfilled diagnostic criteria for NMOSD. The two NMOSD patients had recurrent longitudinally extensive transverse myelitis. Four cases had a monophasic disease course, and six cases had a recurrent course. In eight NMO patients, neuritis was the initial presentation. The two NMOSD patients had no neuritis in the first attack. Nine cases had clinical manifestations of myelitis, one case had asymptomatic spinal cord MRI anomaly. Among the ten patients, seven cases had brain lesions, wherein, four cases had the midbrain involvement and in four cases extensive hemispheric white matter was involved. Three cases had medullary involvement. And two cases had posterior limb of the internal capsule involvement, two cases had thalamus involvement. In one case there was pons, cerebellum or corpus callosum involvement, respectively. One case had accompanied brain symptoms. Of the five patients who had symptomatic brain lesions, four cases had encephalopathy accompanied by large hemispheric lesions on MRI, having a presentation similar to acute disseminated encephalomyelitis. And one case had multiple sclerosis like brain lesion. Of the ten patients tested, nine were seropositive for anti-aquaporin-4 autoantibody. One-patient was complicated with systemic lupus erythematosus. Oligoclonal bands were negative in all cases. All patients received treatment for acute attacks with high-dose intravenous methylprednisolone and intravenous gammaglobulin. The symptoms of 8 cases mitigated. Two cases whose symptoms showed no sign of improvement received plasmapheresis for acute attacks. Seven of the patients were followed up. The median duration of follow-up was 19 months (ranged from 13 months to 30 months). The median Expanded disability status (EDSS) score was 3 (range 1-7). Pediatric NMO and(or) NMOSD have a diverse clinical presentation which are more than just optic neuritis and transverse myelitis, including brain symptom. So it may be difficult to distinguish NMO and( or) NMOSD from acute disseminating encephalomyelitis and multiple sclerosis in the early stages of the disease. Antibodies to aquapoin-4 (AQP-Ab) testing is very important for differential diagnosis.

Acute callosal disconnection syndrome as an initial manifestation of neuromyelitis optica spectrum disorders

AbstractWe present a 76‐year‐old ambidextrous man with acute callosal disconnection syndrome accompanied by acquired stuttering and right hemiparesis. Brain magnetic resonance imaging showed edematous pancallosal lesions and a spotty lesion in the left precentral gyrus. We diagnosed him as having neuromyelitis optica spectrum disorders according to the seropositivity for anti‐aquaporin‐4 antibody. Callosal disconnection syndrome presented unique laterality as a result of ambidexterity, and was outstanding even during the acute attack as a result of massive and selective corpus callosum involvement. Measurement of anti‐aquaporin‐4 antibody can be useful for differential diagnosis of patients presenting acute callosal disconnection syndrome.

Neurocognitive impairment in Susac syndrome: Magnetic resonance imaging and Tc-99m hexamethylpropyleneamine oxime single photon emission computed tomography correlation.

Susac syndrome is a clinical triad of branch retinal artery occlusions, sensorineural hearing loss, and encephalopathy. The characteristic central corpus callosum involvement in Susac syndrome is readily recognizable on conventional magnetic resonance imaging (MRI); however, the neurocognitive effect of these lesions is not well-understood. We present a case of Susac syndrome with typical MRI findings of central callosal lesions at diagnosis. The patient had a protracted clinical course and did not respond well to immunosuppression therapy. Follow-up brain single photon emission computed tomography with Tc-99m hexamethylpropyleneamine oxime revealed marked unilateral frontoparietal and temporal lobe hypoperfusion. Our case highlights the utility of functional neuroimaging to uncover the possible underlying white matter dysfunction, which is not otherwise detectable with conventional MRI techniques.

The relationship between regional microstructural abnormalities of the corpus callosum and physical and cognitive disability in relapsing-remitting multiple sclerosis.

Significant corpus callosum (CC) involvement has been found in relapsing–remitting multiple sclerosis (RRMS), even if conventional magnetic resonance imaging measures have shown poor correlation with clinical disability measures. In this work, we tested the potential of multimodal imaging of the entire CC to explain physical and cognitive disability in 47 patients with RRMS. Values of thickness, fractional anisotropy (FA) and mean diffusivity (MD) were extracted from 50 regions of interest (ROIs) sampled along the bundle. The relationships between clinical, neuropsychological and imaging variables were assessed by using Spearman's correlation. Multiple linear regression analysis was employed in order to identify the relative importance of imaging metrics in modeling different clinical variables. Regional fiber composition of the CC differentially explained the response variables (Expanded Disability Status Scale [EDSS], cognitive impairment). Increases in EDSS were explained by reductions in CC thickness and MD. Cognitive impairment was mainly explained by FA reductions in the genu and splenium. Regional CC imaging properties differentially explained disability within RRMS patients revealing strong, distinct patterns of correlation with clinical and cognitive status of patients affected by this specific clinical phenotype.

Cognitive dysfunction in pediatric multiple sclerosis.

Cognitive and neuropsychological impairments are well documented in adult multiple sclerosis (MS). Research has only recently focused on cognitive disabilities in pediatric cases, highlighting some differences between pediatric and adult cases. Impairments in several functions have been reported in children, particularly in relation to attention, processing speed, visual–motor skills, and language. Language seems to be particularly vulnerable in pediatric MS, unlike in adults in whom it is usually preserved. Deficits in executive functions, which are considered MS-specific in adults, have been inconsistently reported in children. In children, as compared to adults, the relationship between cognitive dysfunctions and the two other main symptoms of MS, fatigue and psychiatric disorders, was poorly explored. Furthermore, data on the correlations of cognitive impairments with clinical and neuroimaging features are scarce in children, and the results are often incongruent; interestingly, involvement of corpus callosum and reduced thalamic volume differentiated patients identified as having a cognitive impairment from those without a cognitive impairment. Further studies about pediatric MS are needed in order to better understand the impact of the disease on brain development and the resulting effect on cognitive functions, particularly with respect to different therapeutic strategies.

A case of susac syndrome.

A 32-year-woman presented with mild encephalopathy, unsteady gait and instability, history of bilateral deafness, and bilateral visual changes. Magnetic resonance imaging of the brain demonstrated multiple hyperintensities involving the corpus callosum (Figure 1). There was no cord signal abnormality on imaging studies of the spinal cord. Imaging studies of the cervical and intracranial vasculature showed no evidence of vasculitis. Cerebrospinal fluid markers for inflammation and demyelination were negative, including oligoclonal bands. Visual evoked potentials were within normal limits. Extensive laboratory testing including Lyme antibody titers was unremarkable. Ophthalmology referral confirmed bilateral branch retinal artery occlusions. The patient was also referred for audiography evaluation, which confirmed bilateral hearing loss. These symptoms, retinal and audiographic examination, and imaging study findings were consistent with a diagnosis of Susac syndrome. Susac syndrome is an immune-mediated endotheliopathy characterized by the triad of encephalopathy, cochlear hearing loss, and retinal artery occlusions diagnosed by clinical examination supported by pathognomonic corpus callosum involvement on magnetic resonance imaging.1 The patient was initially treated with corticosteroids, but these were discontinued following resolution of symptoms, as Susac syndrome is a self-limiting condition. Should she experience recurrence of symptoms, options for therapy include a combination of immunosuppressive agents such as corticosteroids, intravenous immunoglobulin, methotrexate, mycophenolate, and cyclosphosphamide.2 Figure 1. Magnetic resonance imaging (MRI) of brain T2 fluid-attenuated inverted recovery (FLAIR) demonstrating multiple hyperintensities involving the corpus callosum.

Blindness, Dancing Extremities, and Corpus Callosum and Brain Stem Involvement

A 4-year-old girl presented with acute visual loss followed 2 weeks later with loss of speech and audition, fulminant neuroregression, and choreo-athetoid movements of extremities. Fundus showed bilateral chorioretinitis. Electroencephalography showed periodic complexes. Measles antibody titers were elevated in both serum and cerebrospinal fluid, consistent with subacute sclerosing panencephalitis. Neuroimaging showed discontiguous involvement of splenium of the corpus callosum and ventral pons with sparing of cortical white matter. Our case highlights the atypical clinical and radiologic presentations of subacute sclerosing panencephalitis. Pediatricians need to be aware that necrotizing chorioretinitis in a child and/or atypical brain stem changes could be the heralding feature of this condition in endemic countries.

Decreased movement-related beta desynchronization and impaired post-movement beta rebound in amyotrophic lateral sclerosis

ObjectiveThis study explored event-related desynchronization (ERD) and synchronization (ERS) in amyotrophic lateral sclerosis (ALS) to quantify cortical sensorimotor processes during volitional movements. We furthermore compared ERD/ERS measures with clinical scores and movement-related cortical potential (MRCP) amplitudes. MethodsElectroencephalograms were recorded while 21 ALS patients and 19 controls performed two self-paced motor tasks: sniffing and right index finger flexion. Based on Wavelet analysis the alpha and beta frequency bands were selected for subsequent evaluation. ResultsPatients generated significantly smaller resting alpha spectral power density (SPD) and smaller beta ERD compared to controls. Additionally patients exhibited merely unilateral post-movement ERS (beta rebound) whereas this phenomenon was bilateral in controls. ERD/ERS amplitudes did not correlate with corresponding MRCPs for either patients or controls. ConclusionsThe smaller resting alpha SPD and beta ERD and asymmetrical appearance of beta ERS in patients compared to controls could be the result of pyramidal cell degeneration and/or corpus callosum involvement in ALS. SignificanceThese results support the notion of reduced movement preparation in ALS involving also areas outside the motor cortex. Furthermore post-movement cortical inhibition seems to be impaired in ALS. ERD/ERS and MRCP are found to be independent measures of cortical motor functions in ALS.

Neuroimagen del linfoma primario del sistema nervioso central en pacientes inmunodeprimidos

PurposesPrimary central nervous system lymphoma (PCNSL) is a rare tumour with poor prognosis. Due to the increased number of patients with acquired immunodeficiency, our purposes are to describe epidemiological and imaging findings in immunodeficient patients with PCNSL of the brain and to study the differences between HIV-positive and HIV-negative patients with PCNSL. Materials and methodsA retrospective, descriptive study was performed with immunodeficient patients diagnosed of PCNSL of the brain during the last 13 years in two reference hospitals. Twenty-one patients fulfilled the inclusion criteria. Multiple variables were evaluated. Significance was defined as p<0.05. ResultsHIV-positive group was a mean age of 36,82±5,4 years and the mean age in HIV-negative group was 55,60±21,43 years (p<0,022). The mean number of lesions was 1,27±0,65 in HIV-positive group and 2,60±1,78 in HIV-negative group (p<0,039). The lesions were homogeneous in 18,2% (n=2) HIV-positive group and 80% (n=8) in HIV-negative group (p<0,005). No HIV-positive patient and 50% (n=5) of HIV-negative patients showed corpus callosum involvement (p<0,012). ConclusionsPCNSL in immunodeficient patients is associated with a large spectrum of radiological findings. There were differences between HIV-positive and HIV-negative patients, is important recognize these differences as the therapeutic management of these two groups vary.

Distributed corpus callosum involvement in amyotrophic lateral sclerosis: a deterministic tractography study using q-ball imaging

Diffusion tensor imaging (DTI) has become a useful tool for investigating early white matter (WM) abnormalities in motor neuron disease. Furthermore, fiber tracking packages that apply multi-tensorial algorithms, such as q-ball imaging (QBI), have been proposed as alternative approaches to overcome DTI limitations in depicting fiber tracts with different orientations within the same voxel. We explored motor and extra-motor WM tract abnormalities in phenotypically heterogeneous amyotrophic lateral sclerosis (ALS) cases aiming to establish a consistent QBI-based WM signature of disease. We performed a whole-brain, QBI tract-based spatial statistics analysis with deterministic tractography of genu, body and splenium of corpus callosum (CC) and corticospinal tracts (CST) in 20 ALS patients (12 classical and 8 lower motor neuron variants) compared to 20 healthy controls. Mean tract length, fiber volume and density, and generalized fractional anisotropy were extracted and related to clinical indices of pyramidal impairment (upper motor neuron score), disease disability (ALS functional rating scale-revised) and progression. ALS patients showed significantly decreased fiber density and volume, and increased tract length in all regions of CC and left CST (p < 0.05, corrected). In CC body, pyramidal impairment was inversely correlated to fiber density (p = 0.01), while in CC splenium, clinical disability (p = 0.01) and progression (p = 0.02) were inversely correlated to tract length. Our findings further suggest that QBI tractography might represent a promising approach for investigating structural alterations in neurodegenerative diseases and confirm that callosal involvement is a consistent feature of most ALS variants, significantly related to both pyramidal dysfunction and disease disability.

Epilepsy in children with periventricular leukomalacia

ObjectiveWe aimed to analyze the development of epilepsy in a patient group with periventricular leukomalacia followed at a tertiary pediatric neurology center. Patients and methodsThe study included 108 children aged between 2 and 8 years with radiologically proven periventricular leukomalacia who had been regularly observed at the Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Neurology outpatient clinic between January 2006 and December 2011. ResultsNeonatal seizures were reported in 22 patients (20.3%), 14 of whom developed epilepsy. A significant correlation was found between neonatal seizures and prematurity and newborn asphyxia (p=0.013 and p=0.010, respectively). Epilepsy developed in 35 patients (32.4%), history of neonatal seizures and more severe loss of white matter, periventricular hyperintensity and corpus callosum involvement were found to be correlated with epilepsy (p=0.001, p=0.004, p=0.016, and p=0.004, respectively). The most common seizure pattern observed was generalized tonic clonic seizures (n=13) and complex partial seizures (n=11). Those with focal EEG findings had a significantly better neurodevelopmental and cognitive level than those with multifocal/generalized EEG findings (p=0.024). Seizures continued with varying frequency in 14 epileptic patients (40%) despite antiepileptic treatment. ConclusionAlmost a third of patients with periventricular leukomalacia develop epilepsy that can be intractable in substantial part. Neonatal seizures and severe MRI findings are important clues that can indicate the development of epilepsy in these patients.

Visual impairment as a possible precursor symptom of Marchiafava-Bignami disease

Marchiafava-Bignami disease is a rare, alcohol-associated disease that primarily involves corpus callosum demyelination. As these corpus callosum lesions increase in size, they can affect the optic chiasm, optic tract and other white matter regions. Here, we report a case that includes the autopsy findings in a 53-year-old man diagnosed with Marchiafava-Bignami disease. The patient developed a visual impairment that preceded a consciousness disturbance by 6 months. Histopatho- logical examination showed optic tract, deep white matter and corpus callosum involvement. Although Marchiafava-Bignami disease can affect the optic tract, visual impairment is not reported as an initial symptom of Marchiafava-Bignami disease. We propose that visual impairment in patients with chronic alcohol abuse might be an early symptom of Marchiafava-Bignami disease.

Differential diagnosis of multiple sclerosis, is Moyamoya in?

Background and purposeThe pleomorphic presentation of multiple sclerosis underscores the importance of the differential diagnosis with several other pathologies, namely cerebral vascular disease. Summary of caseA 37-year-old woman without any previous relevant pathology presented 3 years ago with two episodes of motor deficit. The first on the right upper extremity with improvement following rehabilitation and a second with left hemiparesis also with improvement in less than a week. After routine etiological investigation and with a brain MRI suggestive of multiple sclerosis the patient initiated β-interferon remaining symptom free.Present day examination revealed bilateral loss of hand dexterity, decreased paleasthesia on the inferior limbs and hyperactive reflexes on the left with a left Babinski response.MRI of the brain showed multiple bilateral T2 lesions in the periventricular white matter. Significantly, there was no infra-tentorial or corpus callosum involvement. There was also no associated restricted diffusion. CSF analysis was normal.Based on this findings and with positive familiar history for Moyamoya the patient underwent a four-vessel angiogram that demonstrated bilateral ICA occlusion with formation of distal collateral circulation through extra-cranial and posterior circulation, consistent with Moyamoya disease. ConclusionMoyamoya disease should be considered in multiple sclerosis differential especially with atypical imaging findings on MRI. Also, the improvement experienced with imunomodulatory treatment highlights the need to better understand the pathophysiology of Moyamoya disease.