Nonspecific White Matter Lesions Research Articles

An exploratory study of the damage markers NfL, GFAP, and t-Tau, in cerebrospinal fluid and other findings from a patient cohort enriched for suspected autoimmune psychiatric disease

There is growing evidence suggesting that immunological mechanisms play a significant role in the development of psychiatric symptoms in certain patient subgroups. However, the relationship between clinical red flags for suspected autoimmune psychiatric disease and signs of central nervous system (CNS) pathology (e.g., routine cerebrospinal fluid (CSF) alterations, CNS damage markers, neurophysiological or neuroimaging findings) has received limited attention. Here, we aimed to describe the prevalence and distribution of potential CNS pathologies in psychiatric patients in relation to clinical red flags for autoimmune psychiatric disease and psychiatric symptoms. CSF routine findings and CNS damage markers; neurofilament light chain protein (NfL), glial fibrillary acidic protein (GFAP) and total Tau (t-Tau), in CSF from 127 patients with psychiatric disease preselected for suspected immunological involvement were related to recently proposed clinical red flags, psychiatric features, and MRI and EEG findings. Twenty-one percent had abnormal routine CSF findings and 27% had elevated levels of CNS damage markers. Six percent had anti-neuronal antibodies in serum and 2% had these antibodies in the CSF. Sixty-six percent of patients examined with MRI (n = 88) had alterations, mostly atrophy or nonspecific white matter lesions. Twenty-seven percent of patients with EEG recordings (n = 70) had abnormal findings. Elevated NfL levels were associated with comorbid autoimmunity and affective dysregulation symptoms. Elevated t-Tau was associated with catatonia and higher ratings of agitation/hyperactivity. Elevated GFAP was associated with acute onset, atypical presentation, infectious prodrome, tics, depressive/anxiety symptom ratings and overall greater psychiatric symptom burden. In conclusion, preselection based on suspected autoimmune psychiatric disease identifies a population with a high prevalence of CSF alterations suggesting CNS pathology. Future studies should examine the value of these markers in predicting treatment responses.

The dilemma of bright spots detected on magnetic resonance imaging of the brain for the diagnosis of multiple sclerosis: A retrospective evaluation of nonspecific white matter lesions

The dilemma of bright spots detected on magnetic resonance imaging of the brain for the diagnosis of multiple sclerosis: A retrospective evaluation of nonspecific white matter lesions

Neurologic Deficits and cerebrospinal fluid (CSF) lymphocytosis (HaNDL): a comprehensive systematic review of 93 patients from 57 studies (P3-12.003)

<h3>Objective:</h3> N/A <h3>Background:</h3> Headache with Neurologic Deficits and cerebrospinal fluid (CSF) lymphocytosis (HaNDL) is a self-limiting syndrome characterized by moderate to severe headache associated with focal neurological deficits such as, motor or sensory deficits, or speech disturbances, occurring in the context of lymphocytosis in the cerebrospinal fluid. Due to being a rare condition, data regarding HaNDL is sparse. Therefore, we conducted this review to analyze data related to 93 patients of HaNDL, to characterize their demographics, wide range of presenting symptoms, treatment options in the acute and chronic phases, EEG, brain imaging and CSF findings. <h3>Design/Methods:</h3> We performed a systematic review of cases reported through PubMed and Google scholar database, using Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol. <h3>Results:</h3> The mean age was 28.8 years at onset. 70 patients (75.2%) were adults, while 23 (24.7%) were pediatrics. 30% of patients experienced relapsing episodes of HaNDL symptoms. The most common type of headache reported was unilateral severe throbbing episodic headache. Other associated symptoms included sensory deficit (60%) and motor deficits (54.8%). The least common symptoms were nystagmus and agraphia. Antiviral agents were a common treatment option in the acute phase [n=23 patients (23.6%)], while Flunarizine was the most commonly used agent in the chronic setting [n= 3 patients (3.2%)]. The most common brain MRI findings included nonspecific white matter lesions and meningeal enhancement, whereas the most common EEG findings include diffuse and focal slowing. The mean CSF opening pressure was 240.5 mmH2O. CSF protein was elevated in 59 patients , with a mean value of 114mg/dL. <h3>Conclusions:</h3> HaNDL tends to affect young individuals with a slight male predominance. Unilateral severe throbbing episodic headache with associated hemi-paresthesia and hemiparesis were the most common presenting symptoms based on our review. Early recognition of this syndrome is critical in order to prevent unnecessary treatments such as, antimicrobials. <b>Disclosure:</b> Mr. Asghar has nothing to disclose. Mr. Asghar has nothing to disclose. Mr. Hegde has nothing to disclose. Mr. Delcimmuto has nothing to disclose. Dr. Gharaibeh has nothing to disclose. Dr. Aladamat has nothing to disclose. Dr. Esengul has nothing to disclose. Mohammad Mahmoud Samara, MD has nothing to disclose. Dr. Sheikh has nothing to disclose.

“Klüver-Bucy syndrome as a complication of COVID-19” (P1-12.001)

<h3>Objective:</h3> COVID-19 infection is known to cause various complications, including neuropsychiatric ones. Klüver-Bucy syndrome (KBS) is described following some infections, among other causes, and represents a rare constellation of symptoms. <h3>Background:</h3> Majority of COVID-19 associated psychiatric cases described include depression and anxiety in an outpatient, and agitation and confusion in the ICU setting. There are no reports of constellation of symptoms consistent with partial Klüver-Bucy syndrome, which often has infectious etiology. We report a case of 46 y/o Male with past medical history Cerebral Palsy with baseline left-sided hemiparesis, mild dysarthria, two concussions, cervical dystonia, bipolar disorder who developed intermittent episodes of speaking foreign language (Spanish), desire to consume previously rejected foods, staring spells, hypersexuality, change in his regular hobbies:artistic tendencies instead of previously preferred mathematical problem solving after having a prolonged COVID-19 infection with neuropathic pain in the feet and visual field defects on initial presentation. The patient was successfully treated with Carbamazepine. <h3>Design/Methods:</h3> Patient was monitored and treated in our neurology clinic, after a discharge from the hospital for his new onset acute neuropsychiatric symptoms. <h3>Results:</h3> Diagnostic workup included EEG/Video EEG/Brain MRI with and without contrast/Serum and CSF analysis, and has shown nonspecific white matter lesions on T2/FLAIR sequences of the brain MRI, paucicellularity on CSF flow cytometry with essentially absent B-lineage cells, increase in CD4/CD8 ratio, and decreased CD3%, CD8% and CD8 on a serum lymphocytic panel. SARS-COV-2 PCR remained positive for almost two months <h3>Conclusions:</h3> COVID-19 has been associated with various short and long-term sequelae. Psychiatric complications are not infrequent, but are underreported. In our patient’s case, he presented with symptoms of hypersexuality, dietary change, change in hobbies, vision disturbances, staring spells and episodes of clapping and speaking foreign language. We suggest, that this is the first case of a partial Klüver-Bucy syndrome after COVID-19 with the resolution of symptoms on carbamazepine. <b>Disclosure:</b> Dr. Dargah-Zada has nothing to disclose.

Transient headache and neurological deficits with cerebrospinal fluid lymphocytosis syndrome: A comprehensive systematic review of 93 patients from 57 studies.

Headache with neurologic deficits and cerebrospinal fluid lymphocytosis, previously also termed pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis, is a self-limiting syndrome characterized by moderate to severe headache associated with focal neurological deficits occurring in the context of lymphocytosis in the cerebrospinal fluid. As a consequence of its rarity, data regarding headache with neurologic deficits and cerebrospinal fluid lymphocytosis is sparse. Therefore, we conducted this review to analyze data related to 93 patients of headache with neurologic deficits and cerebrospinal fluid lymphocytosis, to characterize their demographics, clinical manifestations, investigations and treatment options. We performed a systematic review of cases reported through PubMed and Google scholar database, using Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol. Keywords used were 'Headache with Neurologic Deficits and cerebrospinal fluid lymphocytosis', 'Headache with neurologic deficits and cerebrospinal fluid lymphocytosis syndrome'. The quality of the included studies was assessed using the Joanna Briggs Institute Critical Appraisal Tool. We analyzed a total of 93 cases of headache with neurologic deficits and cerebrospinal fluid lymphocytosis with a mean age of 28.8 years at onset. Seventy patients (75.2%) were adults, while 23 (24.7%) belonged to the pediatric age group. Comparing these groups, mean age at onset was 32.5 years and 14.3 years, respectively. The average duration of follow-up was 11.08 months. Thirty percent of patients experienced relapsing episodes of headache with neurologic deficits and cerebrospinal fluid lymphocytosis symptoms. The most common type of headache reported was unilateral severe throbbing episodic headache. Other associated symptoms included sensory deficit (60%) and motor deficits (54.8%). The least common symptoms were nystagmus and agraphia, which were reported in one patient each. Antiviral agents were a common treatment option in the acute phase (n = 23 patients [23.6%]), while Flunarizine was the most commonly used agent in the chronic setting (n = 3 patients [3.2%]). While most of the patients had normal brain magnetic resonance imaging, 20 patients had magnetic resonance imaging abnormalities, including (but not limited to) non-specific white matter lesions (eight patients) and meningeal enhancement (six patients). The most common electroencephalographic findings included diffuse and focal slowing. The mean cerebrospinal fluid opening-pressure was 240.5 mmH2O. Cerebrospinal fluid protein was elevated in 59 (63.4%) patients, with a mean value of 114 mg/dL. Two patients in our cohort were found to have cerebrospinal fluid oligoclonal bands. Headache with neurologic deficits and cerebrospinal fluid lymphocytosis tends to affect young individuals with a slight male predominance. Unilateral severe throbbing episodic headache with associated hemi-paresthesia and hemiparesis were the most common symptoms based on our review. Elevated cerebrospinal fluid opening-pressure can be seen in headache with neurologic deficits and cerebrospinal fluid lymphocytosis syndrome. Early recognition of the syndrome is paramount. Antivirals were found to be among the most widely used treatments in the acute setting. Magnetic resonance imaging of the brain is mostly normal. Diffuse and focal slowing were among the most common electroencephalographic findings. Cerebral flow abnormalities on perfusion scans are not uncommon in headache with neurologic deficits and cerebrospinal fluid lymphocytosis. Prospective studies with a larger sample size are needed to validate our findings and guide the clinical care of these patients.

Optical Coherence Tomography in the Differential Diagnosis of Patients with Multiple Sclerosis and Patients with MRI Nonspecific White Matter Lesions.

In the differential diagnosis of nonspecific white matter lesions (NSWMLs) detected on magnetic resonance imaging (MRI), multiple sclerosis (MS) should be taken into consideration. Optical coherence tomography (OCT) is a promising tool applied in the differential diagnostic process of MS. We tested whether OCT may be useful in distinguishing between MS and NSWMLs patients. In patients with MS (n = 41) and NSWMLs (n = 19), the following OCT parameters were measured: thickness of the peripapillary Retinal Nerve Fibre Layer (pRNFL) in superior, inferior, nasal, and temporal segments; thickness of the ganglion cell-inner plexiform layer (GCIPL); thickness of macular RNFL (mRNFL); and macular volume (MV). In MS patients, GCIPL was significantly lower than in NSWMLs patients (p = 0.024). Additionally, in MS patients, mRNFL was significantly lower than in NSWMLs patients (p = 0.030). The average segmental pRNFL and MV did not differ between MS and NSWMLs patients (p > 0.05). GCIPL and macular RNFL thinning significantly influenced the risk of MS (18.6% [95% CI 2.7%, 25.3%]; 27.4% [95% CI 4.5%, 62.3%]), and reduced GCIPL thickness appeared to be the best predictor of MS. We conclude that OCT may be helpful in the differential diagnosis of MS and NSWMLs patients in real-world settings.

The frequency and characteristics of MS misdiagnosis in patients referred to the multiple sclerosis centre of Catalonia

Background: Multiple sclerosis (MS) misdiagnosis may cause physical and emotional damage to patients. Objectives: The objective of this study is to determine the frequency and characteristics of MS misdiagnosis in patients referred to the Multiple Sclerosis Centre of Catalonia. Methods: We designed a prospective study including all new consecutive patients referred to our centre between July 2017 and June 2018. Instances of misdiagnosis were identified, and referral diagnosis and final diagnosis were compared after 1 year of follow-up. Association of misdiagnosis with magnetic resonance imaging (MRI) findings, presence of comorbidities and family history of autoimmunity were assessed. Results: A total of 354 patients were referred to our centre within the study period, 112 (31.8%) with ‘established MS’. Misdiagnosis was identified in eight out of 112 cases (7.1%). MRI identified multifocal white matter lesions, deemed non-specific or not suggestive of MS in all misdiagnosed cases. Patients with MS misdiagnosis had more comorbidities in general than patients with MS (p = 0.026) as well as a personal history of autoimmunity (p < 0.001). Conclusion: A low frequency of MS misdiagnosis was found in our clinical setting. Multifocal non-specific white matter lesions in referral MRI examinations and the presence of comorbidities, including a personal history of autoimmunity, seem to be contributing factors to misdiagnosis.

Heterogeneity of Bal\xf3\u2019s concentric sclerosis: a study of eight cases with different therapeutic concepts

BackgroundBaló’s Concentric Sclerosis (BCS) is a rare heterogeneous demyelinating disease with a variety of phenotypes on Magnetic Resonance Imaging (MRI). Existing literature lacks data especially on the therapeutic approach of the disease which we intended to elucidate by means of suggesting a new possible BCS classification and introducing different therapeutic concepts based on each BCS-subgroup characteristics.MethodsWe present a retrospective study of eight treated patients with BCS-type lesions, emphasizing on MRI characteristics and differences on therapeutic maneuvers.ResultsData analysis showed: at disease onset the BCS-type lesion was tumefactive (size ≥2 cm) in 6 patients, with a mean size of 2.7 cm (± 0.80 SD); a coexistence of MS-like plaques on brain MRI was identified in 7 patients of our cohort. The mean age was 26.3 years (±7.3 SD) at disease onset and the mean follow-up period was 56.8 months (range 9–132 months). According to radiological characteristics and response to therapies, we further categorized them into 3 subgroups: a) Group-1; BCS with or without coexisting nonspecific white matter lesions; poor response to intravenous methylprednisolone (IVMP); treated with high doses of immunosuppressive agents (4 patients), b) Group-2; BCS with typical MS lesions; good response to IVMP; treated with MS-disease modifying therapies (2 patients), c) Group-3; BCS with typical MS lesions; poor response to IVMP; treated with rituximab (2 patients).ConclusionsOur study introduces a new insight regarding the categorization of BCS into three subgroups depending on radiological features at onset and during the course of the disease, in combination with the response to different immunotherapies. Immunosuppressive agents such as cyclophosphamide are usually effective in BCS. However, therapeutic alternatives like anti-CD20 monoclonal antibodies or more classical disease-modifying MS therapies can be considered when BCS has also mixed lesions similar to MS. Future studies with a larger sample size are necessary to further establish these findings, thus leading to better treatment algorithms and improved clinical outcomes.

The importance of follow-up and re-diagnosis of patients with demyelinating syndrome suspicion - a case study of a conversion from radiologically isolated syndrome to clinically definite multiple sclerosis

Introduction. Radiologically isolated syndrome (RIS) is a term to describe criteria of diagnosis for the individuals, who underwent brain MRI because of other reasons than multiple sclerosis (MS) suspicion, but turned out to have white matter lesions similar to those present in patients with diagnosed MS. RIS is a separate entity with the presence of MR detected lesions strongly suggestive of MS in patients with no neurological manifestations. Although RIS is not the first stage of MS in every individual, 30-45% of them will present clinical symptoms later. There is a consensus, that about 1/3 of RIS patients will convert to clinically definite MS (CDMS) within 5 years of follow-up. There are some significant predictors of conversion, such as: age (&lt; 37 when diagnosed), male sex and presence of lesions in spinal cord.Case report. We describe a case of a 35-year-old female patient who was initially diagnosed with RIS after MRI performed due to migraine. After about year and a half of follow-up she presented first clinical manifestation (temporary left eye blindness) followed by second episode (in the second eye), a progression in MRI and appearance of oligoclonal bands in cerebrospinal fluid.Discussion. Among individuals with incidentally found lesions in MRI, only few happen to have white matter findings similar to demyelinating lesions in patients with CDMS. Non-specific MRI white matter lesions are much more often than than those fulfilling 2017 MAGNIMS criteria.There is more research needed to determine significant risk factors for conversion from RIS to CDMS. In RIS patients watchful neurological supervision is indispensable.

Unusual Brain MRI Findings in Patients Imaged for Headache: a Case Series.

We describe a series of cases with unusual brain MRI findings in patients who present with headache disorders. Incidental findings in patients imaged for headache include the following: aneurysm, arachnoid cyst, cerebral vascular malformations, Arnold-Chiari malformations, empty sella turcica, gray matter heterotopias, mastoiditis, mega cisterna magna, meningioma, normal variants of cerebral circulation, paranasal sinus disease, pineal cyst, pituitary tumor, Rathke's cleft cyst, skull hyperostosis, and vestibular schwannoma. The most common abnormal MRI findings encountered in migraine are nonspecific white matter lesions. The current 2019 guidelines from the American College of Radiology and American Headache Society recommend against ordering neuroimaging in patients with a high probability of a primary headache disorder not typically associated with diagnostic imaging findings and who have normal neurologic exam in addition to no red flags in history. Often, unnecessary neuroimaging yields incidental findings, and this typically results in patient anxiety and further unnecessary testing. Detailed below are a series of cases in which unusual findings were found in patients presenting to our clinic for further evaluation of headache disorders. Imaging may have been done prior to presentation to us or by us due to concern for secondary causes.

Evaluation of Non-specific Cerebral White Matter Lesions and Related Factors in Patients with Migraine with Aura

Evaluation of Non-specific Cerebral White Matter Lesions and Related Factors in Patients with Migraine with Aura

Neuroimaging for Migraine: The American Headache Society Systematic Review and Evidence-Based Guideline.

To provide updated evidence-based recommendations about when to obtain neuroimaging in patients with migraine. Articles were included in the systematic review if they studied adults 18 and over who were seeking outpatient treatment for any type of migraine and who underwent neuroimaging (MRI or CT). Medline, Web of Science, and Cochrane Clinical Trials were searched from 1973 to August 31, 2018. Reviewers identified studies, extracted data, and assessed the quality of the evidence in duplicate. We assessed study quality using the Newcastle-Ottawa Scale. The initial search yielded 2269 publications. Twenty three articles met inclusion criteria and were included in the final review. The majority of studies were retrospective cohort or cross-sectional studies. There were 4 prospective observational studies. Ten studies evaluated the utility of CT only, 9 MRI only, and 4 evaluated both. Common abnormalities included chronic ischemia or atrophy with CT and MRI scanning, and non-specific white matter lesions with MRI. Clinically meaningful abnormalities requiring intervention were relatively rare. Clinically significant neuroimaging abnormalities in patients with headaches consistent with migraine without atypical features or red flags appeared no more common than in the general population. There is no necessity to do neuroimaging in patients with headaches consistent with migraine who have a normal neurologic examination, and there are no atypical features or red flags present. Grade A Neuroimaging may be considered for presumed migraine for the following reasons: unusual, prolonged, or persistent aura; increasing frequency, severity, or change in clinical features, first or worst migraine, migraine with brainstem aura, migraine with confusion, migraine with motor manifestations (hemiplegic migraine), late-life migraine accompaniments, aura without headache, side-locked headache, and posttraumatic headache. Most of these are consensus based with little or no literature support. Grade C.

Different diagnoses of patients referred to multiple sclerosis outpatient clinic

The aim of this study is to investigate the frequency and type of MS mimics in the patients who were diagnosed with MS in other centers and applied to our MS center in the last 3 years. We included all patients who applied to our MS clinic between January 1, 2016 and December 31, 2018 for the first time in our retrospective study. The definitive diagnosis was recorded and demographic, clinical, laboratory, electrophysiological and radiological variables were collected. 296 patients were included in the study. Of 235 patients referred from other centers, 166 (70.6%) confirmed the diagnosis of definitive MS, while 69 (29.4%) had an alternative diagnosis. While 52.5% of the patients referred with clinical suspicion were diagnosed with MS, 8.1% of those who were referred with radiological suspicion were diagnosed with MS. The most frequently diagnosed diagnoses were: non-specific MRI white matter lesions (17.9%), migraine (11.5%), psychogenic (8.9%), systemic autoimmune diseases (6.4%), NMO (4, 7%), and genetic diseases (1,7%). Factors that assisted in the correct diagnosis were; non-specific MRI findings, normal neurological examination, normal evoked potentials, isolated MRI findings, MRI findings not fulfilling 2010 McDonald criteria, absence of oligoclonal bands, cognitive presenting symptoms, family story. Our study shows that 29,4% of patients had an alternative diagnosis. The most common mimickers of MS in our center is not different from what has been described in other countries. Neurological signs and symptoms, age, family story, DNA analysis, laboratory and radiological findings can help with the true diagnosis.

Serial brain MRI changes related to autoimmune pathophysiology in Hashimoto encephalopathy with anti-NAE antibodies: A case-series study

PurposeHashimoto encephalopathy (HE) is an autoimmune-mediated encephalopathy associated with anti-thyroid antibodies. We previously discovered serum autoantibodies against the NH2-terminal of α-enolase (NAE), which serve as a specific diagnostic biomarker for HE and may be involved in the autoimmune pathophysiology of HE, including vasculitis. Although the common findings of brain magnetic resonance imaging (MRI) in HE have been recognized as normal or non-specific white matter lesions, serial MRI changes have been less well studied. The aim of this study was to clarify detailed and longitudinal MRI changes in HE associated with anti-NAE antibodies. MethodsWe investigated serial brain MR images in 12 Japanese patients with HE who had serum anti-NAE antibodies. ResultsBrain MRI showed diffuse white matter abnormalities and/or multiple small subcortical lesions in 10 patients. These lesions were apparently non-specific; however, in 7 of these patients we observed expanding and diminishing white matter lesions, emerging subcortical high-intensity spots on diffusion-weighted images, or reversible limbic lesions, which worsened at relapse and improved after recovery following immunotherapies. ConclusionMRI lesions that fluctuate according to the disease condition were frequently observed in HE patients with anti-NAE antibodies, which suggests that these fluctuation may be associated with the autoimmune pathophysiology of HE.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Recessive mutations in DDHD2 cause SPG54, a complex hereditary spastic paraplegia (HSP) with less than forty patients reported worldwide. In this retrospective, multicenter study we describe eight additional SPG54 cases harboring homozygous or compound heterozygous DDHD2 variants. Finally, we reviewed literature data on SPG54, with the aim to better define the phenotype and the brain magnetic resonance imaging (MRI) pattern as well as genotype-phenotype correlations. SPG54 is typically characterized by early-onset (i.e., congenital or, more frequently, infantile) delay in motor and cognitive milestones, coupled or followed by appearance of spasticity. Cognitive impairment is absent in adult-onset cases. Spasticity progresses over time. Abnormal eye movement, found in about 50% of cases, is the feature most frequently associated with spasticity and developmental delay. Cerebellar ataxia is a prominent sign in several patients, including one adult of this study, suggesting to include SPG54 in the differential diagnosis of spastic-ataxia syndromes. Brain MRI shows thin corpus callosum and non-specific periventricular white matter lesions in about 90% and 70% of cases, respectively. Brain MR spectroscopy reveals abnormal lipid peak in 90% of investigated patients. Twenty-one pathogenic changes have been reported so far, many of which are nonsense or small deletion/duplication. Most mutations appear to be private, with only two mutations recurring in three (i.e., R287*) or more families (i.e., D660H). The identification of nine novel variants expands the molecular spectrum of DDHD2-related HSP and corroborates the notion of a quite homogeneous clinical and neuroradiological phenotype in spite of different genotypes.

Clinical Features of the Patients with Neuromyelitis Optica Spectrum Disorder.

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory, demyelinating syndrome of the central nervous system (CNS) that predominantly affects the spinal cord and optic nerves. Since it was first described, new information about the pathophysiology gained momentum with the discovery of an antibody against Aquaporin-4, a water channel protein that is predominantly found in the astrocytes. In our study, we evaluated the clinical features of NMOSD and clinically related CNS disorders. In our study, we recruited patients that were followed by Clinic for Multiple Sclerosis and Myelin Disorders at Istanbul University between 1979 and 2016. Thirty-five NMOSD, fifteen relapsing inflammatory optic neuropathy (RION) and ten opticospinal multiple sclerosis (OSMS) patients were recruited in our study. Forty-eight patients (%80) were female and twelve (%20) were male. Age, sex, follow-up period, annualized relapse rate, relapses in the first two years and progression index were similar between the groups. Cerebrospinal fluid (CSF) protein levels were higher in the NMOSD group. Concomitant autoimmune disorders were observed in six NMOSD patients and two OSMS patients. One patient with RION had nonspecific white matter lesions without gadolinium enhancement in the brain MRI. Laboratory and imaging findings suggests that NMOSD is a distinct disorder than RION and OSMS. Further studies are needed to say specific comments about the existence of OSMS.

Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population.

To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients. Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the "ear of the lynx sign". In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.

MRI of the Optic Nerves and Chiasm in Patients With Leber Hereditary Optic Neuropathy.

The aim of this study was to characterize brain and orbital MRI features of patients with Leber hereditary optic neuropathy (LHON), with particular attention to the optic nerves and chiasm. We studied a patient cohort with genetically confirmed LHON followed at 2 ophthalmologic hospitals in France between 2013 and 2015. High-resolution brain and orbital MRI studies were analyzed for each patient during the first 12 months after the onset of visual loss was analyzed. Our study included 20 men and 8 women with a mean age of 38.3 years at diagnosis, and all had genetic mutations for LHON. Nineteen patients (67.9%) had T2 hyperintensity in the posterior portion of both optic nerves and in the optic chiasm, and enlargement of the chiasm was found in 16 patients (59.3%). No enhancement of the optic nerves or chiasm was detected. The T2 hyperintensity lesions were not associated with the time between symptom onset and obtaining MRI, the mutation type, or sex of the patient. Nonspecific T2 white matter lesions were found in MRI of 6 patients, but without the characteristics of those found in patients with multiple sclerosis. Involvement of the posterior portions of the optic nerves has been described previously in case reports of patients with LHON. Our results support this observation with neuroimaging performed within 1 year of onset of visual loss. Enlargement of the optic chiasm also may occur in patients with LHON. The pathophysiology of the MRI changes is not yet understood.

Should Spinal MRI Be Routinely Performed in Patients With Clinically Isolated Optic Neuritis?

Should Spinal MRI Be Routinely Performed in Patients With Clinically Isolated Optic Neuritis?

Diagnostic Significance of Hyperintense Lesion in the Pons on Brain Magnetic Resonance Imaging in Patients with Intravascular Lymphoma

Introduction: Neurological symptoms related to the involvement of the central nervous system (CNS) have been commonly observed at diagnosis and at relapse in intravascular large B-cell lymphoma (IVLBCL). Although various patterns of abnormal findings on brain magnetic resonance imaging (MRI) in patients with IVLBCL have been reported, most of them were from case reports or small case series of selected patients.Hence, we aimed to investigate the prevalence and clinical value of abnormal findings detected using brain MRI in patients with IVLBCL regarding diagnosis and prognosis.Methods: A total of 33 consecutive patients diagnosed with IVLBCL who underwent treatment at Kameda Medical Center between 1998 and 2017 were available for data of routine pretreatment brain MRI.The diagnosis of IVLBCL was pathologically made by an expert hematopathologist (KT) in all patients. Brain MRI was performed as previously reported, and the abnormalities were classified into the following 4patterns by 2 neuroradiologists in consensus (Figure 1): (A) hyperintense lesion in the pons on T2-weighted imaging (T2WI), (B) nonspecific white matter lesions, (C) infarct-like lesions, and (D) meningeal thickening and/or enhancement. We subsequently identified 77 consecutive patients (52 patients at initial presentation and 25 patients at relapse) with pathologically diagnosed diffuse large B-cell lymphoma (DLBCL) without IVLBCL and 41 patients who received random-skin biopsy on the suspicion of IVLBCL but were found to be negative, as control groups for the presence or absence of hyperintense lesions in the pons.Results: Pretreatment brain MRI revealed abnormal findings in 29 (87.9%) patients. Hyperintense lesions in the pons on T2WI was the most common abnormal finding and was detected in 19 (65.5%) patients. Among them, 10 (52.6%) patients did not have impaired consciousness (Figure 2). Among the 7 patients in whom hyperintense lesions in the pons on T2WI was the sole abnormality, 5 patients (71.4%) did not have impaired consciousness. Infarct-like lesions were detected in 8 (27.6%) patients, and impaired consciousness was more frequent in patients with this pattern than in those without (87.5% vs. 28.0%; P=0.005). Nonspecific white matter lesions and meningeal thickening and/or enhancement were detected in 14 (48.3%) and 4 (13.8%) patients, respectively. No significant difference in overall survival (OS) was detected between patients with and without hyperintense lesions in the pons on T2WI (Figure 3). Patients with nonspecific white matter lesions had relatively shorter OS than those without the finding, although the difference was not statistically significant (median OS, 19.8 months vs. not achieved; P=0.057). Infarct-like lesions were associated with unfavorable survival (median OS, 12.5 months vs. not achieved; P=0.030). Follow-up brain MRI revealed improvements in abnormal findings in most of the patients who responded to chemotherapy (Figure 4). Furthermore, postmortem examinations revealed pathological changes in the brain related to the lymphoma lesions, indicating that these MRI findings might represent these lesions of the brain. Next, we reviewed findings on brain MRI in 77 control patients with DLBCL without IVLBCL. Among them, 16 (20.8%) patients had concomitant CNS involvement of lymphoma. No patients harbored hyperintense lesions in the pons, in contrast with the patients with IVLBCL (P<0.001). This finding was detected in no patient also among those who received random-skin biopsy on the suspicion of IVLBCL but were found to be negative (P<0.001).Conclusions: Our findings revealed that most patients with IVLBCL presented abnormal findings on pretreatment brain MRI, even if they exhibited no neurological symptoms. In particular, hyperintense lesions in the pons on T2WI were frequently observed in patients with IVLBCL, irrespective of the presence or absence of impaired consciousness, and were highly specific in IVLBCL compared to those in control groups, suggesting that this pattern may be pathognomonic and valuable for the timely diagnosis of IVLBCL. Improvements in all types of abnormal findings on follow-up brain MRI indicated that these findings might reflect structural changes associated with IVLBCL and might be useful for confirmation of the therapeutic effect. Further longitudinal studies are required to validate our findings and determine their clinical implications. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.