Brain MRI Findings Research Articles

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis

ObjectiveDespite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations. MethodsTwenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls. ResultsFocal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients. Cerebellar atrophy was common (62%), present from the age of 5 years. Progression was observed in two out of 6 patients with follow-up scans. Cortical atrophy (62%) and corpus callosum thinning (23%) were already present in a 13-month-old child. The presence of low T2 signal intensity in basal ganglia and thalami was excluded by the normalized signal intensity profiling. The enlargement of perivascular spaces in white matter (38%), widening of perioptic CSF spaces (62%), and enlargement of cisterna magna (85%) were also observed. Diploic space thickening (100%), mucosal thickening (69%) and sinus hypoplasia (54%) were the most frequent non-CNS abnormalities. ConclusionWhite matter changes and cerebellar atrophy are proposed to be the characteristic brain MRI features of AM. The previously reported decreased T2 signal intensity in basal ganglia and thalami was not detected in this quantitative study. Rather, this relative MR appearance seems to be related to the diffuse high T2 signal in the adjacent white matter and not the gray matter iron deposition that has been hypothesized.

Corticobasal syndrome in a 23‐year‐old female

AbstractBackgroundThe Corticobasal Syndrome (CBS) is characterized by unilateral parkinsonism and higher cortical dysfunction including apraxia, cortical sensory loss, agnosia, and alien limb phenomena. The underlying neurodegenerative causes of CBS include tauopathies (Corticobasal degeneration [CBD], progressive supranuclear palsy), Alzheimer disease, Lewy body disease, and prion disease, with CBD being most common (CBS‐CBD). Disease onset is typically in the fifth to sixth decade of life. Here we present a case of a woman with sporadic CBS due to underlying tauopathy with first signs and symptoms of disease noted at the age 23 yearsMethodThe patient is a participant of the University of California, San Francisco (UCSF) Memory and Aging Center (MAC) observational, longitudinal research program. The patient underwent structured neurological history and examination, neuropsychological testing, brain MRI, and neurodegenerative disease biomarker studiesResultThe patient is 28‐year‐old, right‐handed, bilingual (Spanish and English) woman with 12 years education. She presented with a 5 year history of slowly progressive left upper and lower extremity sensorimotor deficits, involuntary movements of the left upper extremity, and imbalance. There was no family history of progressive neurological or psychiatric illness. Her neurological examination was notable for left upper and lower extremity rigidity, myoclonic jerks, and dystonic posturing of the left hand. She demonstrated ideomotor apraxia, agraphesthesia, astereognosis, and finger agnosia of the left hand. Neuropsychological examination revealed mild deficits in frontal‐executive functions. Serological and cerebrospinal fluid analyses were unrevealing. Brain MRI with and without gadolinium enhancement showed severe right‐sided peri‐rolandic atrophy. Tau PET imaging showed asymmetric moderate tracer uptake over the dorsal fronto‐parietal cortices. Genetic testing was negative for MAPT, C9orf72, GRN, TARDBP, FUS, PSEN1, PSEN2, and APP mutations/expansions.ConclusionCBS is rare before the age of 50 years. We present a case of a 28‐year‐old woman who meets research criteria for CBS, with brain MRI and tau PET imaging findings suggestive of underlying tauopathy, most likely CBD (CBS – CBD). To our knowledge, this is the youngest case of CBS – CBD ever reported.

Posterior cortical atrophy syndrome: Asian study

AbstractBackgroundPosterior cortical atrophy (PCA) syndrome is a rare clinical syndrome occurred in the first several years of several progressive neurodegenerative diseases, of which the manifestations are mainly confined to the impairments in the functions of posterior cerebral cortices. The underlying pathomechanisms may include Alzheimer‘s disease, Lewy body disease, corticobasal degeneration and prion disease. A consensus of the diagnostic procedures for PCA syndrome has been published in 2017, based on cases from Western countries.MethodWe invited behavioral neurologists from five Asian countries to join the study and followed the suggestions of the paper published by Scott and Crutch (2019). Each research participant investigated their cases and submitted the results to chief principal investigator. Data were analyzed and compared with those of Western countries. Moreover, a workshop was held at Tainan, Taiwan in the winter of 2019 for all investigators to reach consensus on the results.ResultA total of 63 cases (26 male) from Taiwan, Thailand, Singapore, Korea and Japan were included. Their mean age was 64.48 (SD 8.26) years, onset age 59.7 (8.37) years, and education 10.76 (5.43) years. 94.9% of the findings of brain MRI and 86.8% of the brain SPECT supported a diagnosis of PCA syndrome. As compared with the results of Crutch et al (2017), the Asian data showed more often in space perception deficits, simultanagnosia, construction dyspraxia, oculomotor apraxia, dressing apraxia, optic ataxia, alexia, left/right disorientation, acalculia, agraphia, finger agnosia, limb rigidity, onset before 65, prominent early memory disturbance, and prominent early language disturbance, while less often in hallucination. The PCA‐plus cases (n=12), as defined by 2017 consensus, were older and more in favor of Lewy body disease. Meanwhile, PCA‐plus cases had more dressing apraxia and more alexia. PCA patients with Parkinsonism had more optic ataxia, dressing apraxia, left/right disorientation, acalculia, more relative spared memory impairment and less relative spared executive dysfunction.ConclusionThe public awareness of PCA syndrome is inadequate, which may delay its timely diagnosis. The differences in clinical features between Asian and Western countries need further investigation.

Electroencephalography in systemic lupus erythematosus patients with neuropsychiatric manifestations

BackgroundNeuropsychiatric manifestations are frequently reported in systemic lupus erythematosus (SLE) patients. This study was done to describe electroencephalographic (EEG) findings in SLE patients with neuropsychiatric manifestation (NPSLE).ResultsAmong 60 SLE patients, there were 50 females (83.3%) and 10 males (16.7%). EEG abnormalities were reported in 12 patients out of 30 (40%) with NPSLE, while all patients with non-NPSLE (n = 30) had no EEG abnormalities; diffuse slowing (20%) was the most common abnormalities, followed by generalized epileptiform activity (13.3%), and lastly temporal epileptiform activity (6.7%). Seizure was the most reported neuropsychiatric disorder in 13 patients (43.3%); 8 of them had abnormal EEG (61.5%). Periventricular white matter lesion (23.3%) followed by infarction (13.3%) were the most common MRI brain findings among 53.3% of NPSLE group. Half of the cases with EEG abnormality had normal brain MRI. SLEDAI score and ACL IgM positivity were higher in the NPSLE group than the non-NPSLE group. EEG is not a sensitive or specific test for detecting NPSLE with sensitivity (37.5%) and specificity (57.1%).ConclusionNot all patients with NPSLE must have abnormal brain MRI or EEG. EEG is a useful assistant tool in the assessment of different manifestations of NPSLE, but it cannot be used as a screening test alone and must be supplemented by neuroimaging studies.

PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN AN ADULT PATIENT WITHSYSTEMICLUPUSERYTHEMATOSUS

We report a case of 40-year-old female who is known to have systemic lupus erythematosus (SLE) presenting with severe cognitive impairment with lymphopenia, proteinuria, and evidence of SLE serological activity. Initially, she was managed as a case of neuropsychiatric systemic lupus erythematosus (NPSLE) with Cyclophosphamide and pulse steroids. However, she has been deteriorating clinically in forms of right sided hemiparesis, blindness, and aphasia despite normalization of complements and anti-double stranded DNA antibodies levels. Diagnosis of progressive multifocal leukoencephalopathy (PML) was made based on her clinical manifestations with brain MRI findings of subcortical white matter lesions and detection of John Cunningham virus (JCV) in cerebrospinal fluid analysis. Immunosuppressive agents were discontinued aiming for immune system restoration.

Neurophysiological and Neuroradiological Changes in Children With Chronic Kidney Disease.

Background: Patients with chronic kidney disease (CKD) on maintenance hemodialysis frequently present with neurological complications. These complications include peripheral neuropathy, encephalopathy, and stroke.Objectives: To detect the prevalence of neurological manifestations and complications in children with CKD through neurophysiological and neuro-radiological findings.Methods: The study included 50 patients with CKD admitted to a pediatric nephrology unit. Their history and complete physical and neurological examination findings had been recorded. All patients underwent nerve conduction, electromyography, electroencephalography, and magnetic resonance imaging of the brain.Results: Fifty children of both sexes (23 males and 27 females) with a mean age of (12.08 ± 3.46 year) were studied. Eleven (22%) patients with CKD developed polyneuropathy, mostly of an axonal polyneuropathy pattern, while 39 (78%) of them showed normal electrophysiological studies. No myopathy was detected. Abnormal electroencephalography findings were detected in 18% of patients, mostly generalized and focal (temporal, occipital, and frontal) epileptogenic activity. Abnormal MRI brain findings were detected in 16% of patients, mostly of encephalomalacia.Conclusion: Uremic neuropathy was highly prevalent in children with CKD on maintenance hemodialysis. They developed polyneuropathy, mostly of an axonal polyneuropathy pattern. EEG is a useful method for early recognition of subclinical uremic encephalopathy and/or epileptogenic activity. Early demonstration and management of uremic neurological conditions may decrease the physical disability of CKD patients.

Progressive multifocal leukoencephalopathy: MRI findings in HIV-infected patients are closer to rituximab- than natalizumab-associated PML.

ObjectivesTo compare brain MRI findings in progressive multifocal leukoencephalopathy (PML) associated to rituximab and natalizumab treatments and HIV infection.Materials and methodsIn this retrospective, multicentric study, we analyzed brain MRI exams from 72 patients diagnosed with definite PML: 32 after natalizumab treatment, 20 after rituximab treatment, and 20 HIV patients. We compared T2- or FLAIR-weighted images, diffusion-weighted images, T2*-weighted images, and contrast enhancement features, as well as lesion distribution, especially gray matter involvement.ResultsThe three PML entities affect U-fibers associated with low signal intensities on T2*-weighted sequences. Natalizumab-associated PML showed a punctuate microcystic appearance in or in the vicinity of the main PML lesions, a potential involvement of the cortex, and contrast enhancement. HIV and rituximab-associated PML showed only mild contrast enhancement, punctuate appearance, and cortical involvement. The CD4/CD8 ratio showed a trend to be higher in the natalizumab group, possibly mirroring a more efficient immune response.ConclusionImaging features of rituximab-associated PML are different from those of natalizumab-associated PML and are closer to those observed in HIV-associated PML.Key Points • Nowadays, PML is emerging as a complication of new effective therapies based on monoclonal antibodies. • Natalizumab-associated PML shows more inflammatory signs, a perivascular distribution “the milky way,” and more cortex involvement than rituximab- and HIV-associated PML. • MRI differences are probably related to higher levels of immunosuppression in HIV patients and those under rituximab therapy.

Neuroimaging findings of brain MRI and CT in patients with COVID-19: A systematic review and meta-analysis

PurposeTo comprehensively evaluate the incidences of abnormal neuroimaging findings in patients with COVID-19 via a systematic review and meta-analysis. MethodPubMed-MEDLINE and EMBASE were searched for original articles reporting imaging findings of the brain in adult patients with COVID-19 between January 1, 2020 and October 9, 2020. Abnormal neuroimaging findings were categorized as (1) cerebral microhemorrhages, (2) acute spontaneous intracranial hemorrhage (ICH), (3) acute to subacute infarcts, and (4) encephalitis or encephalopathy. Pooled incidences of neuroimaging findings were assessed using random-effects modeling. Between-study heterogeneity was explored by using the χ2 statistic for pooled incidences and the inconsistency index I2. The quality of the studies was evaluated using the Risk of Bias Assessment Tool for Nonrandomized Studies. Subgroup meta-regression analysis was performed to identify potential sources of heterogeneity. ResultsTwenty-one eligible papers, including 2125 patients, were identified. The pooled incidences of cerebral microhemorrhages, acute spontaneous ICH, acute/subacute infarcts, and encephalitis/encephalopathy were 6.9 % (95 % confidence interval [CI], 4.9 %–8.9 %), 5.4 % (95 % CI, 3.1 %–7.6 %), 24.0 % (95 % CI, 16.1 %–31.8 %), and 3.3 % (95 % CI, 1.9 %–4.7 %), respectively. Substantial heterogeneities were noted for all neuroimaging findings (I2 = 87 %–97 %). Significant publication biases were present in the pooled incidences. In the subgroup meta-regression analysis, patients with mean or median ages over 65 years showed a significantly lower incidence of encephalitis/encephalopathy (P < 0.001). Furthermore, studies reported that patients in ICU had significantly higher incidences of cerebral microhemorrhages (P < 0.001) and encephalitis/encephalopathy (P < 0.001). ConclusionsConsiderable incidences of abnormal neuroimaging findings have been reported in patients with COVID-19. Acute to subacute cerebral infarction was the most prevalent neuroimaging finding.

Assessment of correlation between silent brain damages and clinical characteristics in patients with persistent atrial fibrillation and concomitant arterial hypertension

Abstract Introduction Silent cerebral microembolic lesions (SML) are known to occur with higher prevalence in persistent AF and could be potential reason of cognitive decline. It seems reasonable to investigate which factors may be related with the SML occurrence in AF pts to implicate it in the future prophylaxis. Purpose To estimate association between brain MRI findings (incidence of silent cerebral microembolism and microbleedings) in patients with persistent atrial fibrillation and their clinical characteristics including concomitant arterial hypertension (AH) and CHA2DS2-VASc score. Methods Pts with persistent AF (n=69) were included in the study. All subjects underwent clinical assessment, thromboembolic and hemorrhagic risk calculation using CHA2DS2-VASc and HAS-BLED score with subsequent cranial MRI examination. The incidence of SML (registered on MRI like small focal hyperintense areas in the brain matter) and microbleedings were assessed. The pts were divided into groups: Gr1 (n=49) – pts with revealed SML, Gr2 (n=20) – without silent brain damages. Clinical characteristics of pts were compared regarding to presence of SML and microbleedings using Mann-Whitney U test. Spearman analysis and ROC- analysis were used for correlation assessment. Results The total incidence of SML was 71% (n=49). Isolated microbleedings were found in 13% (n=9) pts., 59.4% (n=41) pts were anticoagulant naïve. The most part of investigated pts (82.6%, n=57) had well controlled AH: 42 pts (85.7%) in Gr1 and 15 (75%) in Gr2, p=0.1. Persons with SML were significantly older compared to the pts without SML – 59.6±7.1 years vs 52.1±8.9 (p=0.005), had lower EF – 54.4±9.4% vs 58.5±6.8% (p=0,04), higher CHA2DS2-VASc score – 2 [1; 3] vs 1 [0; 1.5] and higher HAS-BLED score – 0 [0; 3] vs 1 [0; 2] (p=0.02). Notably, higher fasting plasma glucose level was registered in Gr1 in comparison with Gr2 – 6.34±2.4 mmol/l vs 5.4±0.5 mmol/l (p=0.008). Significant correlations were calculated between SML and CHA2DS2-VASc score (AUC – 0.875, CI: 0.773–0.977, p=0.006), SML and degree of AH (AUC – 0.658, CI: 0.512–0.803, p=0.039), SML and age (AUC – 0.757, CI: 0.62–0.895, p=0.001). The age cut-off value for revealing SML on brain MRI in pts with persistent AF was determined: 45.5 years (AUC – 0.757, Sensitivity – 97.9%, Specificity – 71.4%, p=0.001). Individuals with microbleedings had only significantly higher CHA2DS2-VASc score – 3 [1; 4] vs 1 [0; 4] (p=0.002) with weak positive correlation (r=0.32, n=69, p=0.009). Conclusion The correlation between brain SML and CHA2DS2-VASc score confirms the ability of that score to predict not only clinically apparent thromboembolic events but also silent microembolism in persistent AF. Brain SML in pts with persistent AF are associated with higher CHA2DS2-VASc score, higher fasting plasma glucose, degree of arterial hypertension. Notably that pts revealing SML on brain MRI were younger compared to the age using in CHA2DS2-VASc score. Funding Acknowledgement Type of funding source: None

MRI features of intra-axial histiocytic brain mass lesions

To describe MRI features, including diffusion-weighted imaging (DWI), magnetic resonance spectroscopy (MRS), and perfusion-weighted imaging (PWI), of intra-axial tumour-like presentations of four different subtypes of histiocytosis. The brain MRI findings of 23 patients with histologically proven histiocytosis were reviewed retrospectively (11 Langerhans cell histiocytosis [LCH], eight Erdheim-Chester disease [ECD], one overlap form LCH/ECD, two Rosai-Dorfman disease [RDD], and one haemophagocytic lymphohistiocytosis [HLH]) with single or multiple enhancing intraparenchymal brain lesions. Histiocytic brain mass lesions show some similar MRI features including Supra and/or infratentorial and/or paraventricular subcortical well-delineated masses, linear ependymal enhancement along the ventricles and brain stem lesions. Masses always present with mixed hyper- and hypointense signal on T2-weighted imaging (WI). Their enhancement is often homogeneous. Apparent diffusion coefficient (ADC) values are often normal or elevated. The presence of multiple periventricular and subcortical enhancing lesions with mixed signal intensity on T2WI and normal or high ADC values should lead radiologists to consider the diagnosis of histiocytic lesions and search for associated systemic lesions.

MRI Brain Findings in 126 Patients with COVID-19: Initial Observations from a Descriptive Literature Review.

Recently, numerous investigational studies, case series, and case reports have been published describing various MR imaging brain findings in patients with COVID-19. The purpose of this literature review was to compile and analyze brain MR imaging findings in patients with COVID-19-related illness. Literature searches of PubMed, publicly available Internet search engines, and medical journal Web sites were performed to identify articles published before May 30, 2020 that described MR imaging brain findings in patients with COVID-19. Twenty-two articles were included in the analysis: 5 investigational studies, 6 case series, and 11 case reports, encompassing MR imaging of the brain in 126 patients. The articles originated from 7 different countries and were published in 14 medical journals. MR imaging brain findings included specific diagnoses (such as acute infarct, posterior reversible encephalopathy syndrome) or specific imaging features (such as cortical FLAIR signal abnormality, microhemorrhages). The most frequent diagnoses made on brain MR imaging in patients with COVID-19 were acute and subacute infarcts. Other common findings included a constellation of leukoencephalopathy and microhemorrhages, leptomeningeal contrast enhancement, and cortical FLAIR signal abnormality.

Differential diagnosis in acute inflammatory myelitis

IntroductionEstablishing differential diagnosis between different inflammatory causes of acute transverse myelitis (ATM) can be difficult. The objective of this study was to see which clinical, imaging or laboratory findings best contribute to confirm ATM etiology. MethodsWe reviewed clinical history, MRI images, CSF and serum laboratory tests in a retrospective study of patients presenting ATM. Univariate and multivariate multinomial logistic regression analysis was performed for each of the items listed above. ResultsOne hundred and seventy-two patients were analyzed in the study: 68 with multiple sclerosis (MS), 67 presenting idiopathic myelitis (IM; 23 of which were recurrent), 21 who developed positive systemic-antibodies associated myelitis (SAb-M) and 16 with neuromyelitis optica spectrum disorders (NMOSD). The following factors were associated with increased risk of developing MS: lower values in the modified Rankin scale at admission; positive oligoclonal bands (OCB); higher spinal cord lesion load; presence of brain demyelinating lesions; and disease recurrence. Longitudinally extended (LE) lesions, brain demyelinating lesions, and recurrences also contributed to final diagnosis of NMOSD. Multivariate multinomial logistic regression analysis showed presence of LE lesions increased risk of NMOSD and recurrence of ATM. Whereas, brain demyelinating lesions, and presence of OCB increased risk of MS. ConclusionsATM etiology may be clarified on the basis of spinal cord and brain MRI findings, together with CSF biochemistry and serum laboratory test results, allowing more timely and exact diagnosis as well as specific therapy for cases of uncertain origin.

Orthostatic hypotension, dizziness, neurology outcomes, and death in older adults.

To test the hypothesis that orthostatic hypotension (OH) might cause cerebral hypoperfusion and injury, we examined the longitudinal relationship between OH or orthostatic symptoms and incident neurologic outcomes in a community population of older adults. Cardiovascular Health Study participants (≥65 years) without dementia or stroke had blood pressure (BP) measured after lying down for 20 minutes and after standing 3 for minutes. Participants reported dizziness immediately upon standing and any dizziness in the past 2weeks. OH was defined as a drop in standing systolic/diastolic BP ≥20/≥10 mm Hg. We determined the association between OH or dizziness with (1) MRI brain findings (ventricular size, white matter hyperintensities, brain infarcts) using linear or logistic regression, (2) cognitive function (baseline and over time) using generalized estimating equations, and (3) prospective adjudicated events (dementia, stroke, death) using Cox models. Models were adjusted for demographic characteristics and OH risk factors. We used multiple imputation to account for missing OH or dizziness (n = 534). Prior to imputation, there were 5,007 participants (mean age 72.7 ± 5.5 years, 57.6% women, 10.9% Black, 16% with OH). OH was modestly associated with death (hazard ratio [HR] 1.11; 95% confidence interval 1.02-1.20), but not MRI findings, cognition, dementia, or stroke. In contrast, dizziness upon standing was associated with lower baseline cognition (β = -1.20; -1.94 to -0.47), incident dementia (HR 1.32; 1.04-1.62), incident stroke (HR 1.22; 1.06-1.41), and death (HR 1.13; 1.06-1.21). Similarly, dizziness over the past 2 weeks was associated with higher white matter grade (β = 0.16; 0.03-0.30), brain infarcts (OR 1.31; 1.06-1.63), lower baseline cognition (β = -1.18; -2.01 to -0.34), and death (HR 1.13; 1.04-1.22). Dizziness was more consistently associated with neurologic outcomes than OH 3 minutes after standing. Delayed OH assessments may miss pathologic information related to cerebral injury.

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.

Retrospective Observational Study of Brain MRI Findings in Patients with Acute SARS-CoV-2 Infection and Neurologic Manifestations.

BackgroundThis study provides a detailed imaging assessment in a large series of COVID-19 patients with neurological manifestations.PurposeTo review the MRI findings associated with acute neurological manifestations in COVID-19 patients.MethodsThis was a cross-sectional study conducted between March 23 and May 7, 2020 at the Pitié-Salpêtrière University Hospital, a reference center for COVID-19 in the Paris area. Inclusion criteria were: adult patients diagnosed with SARS-CoV-2 infection, presenting with acute neurological manifestations and referred for a brain MRI examination. Patients were excluded if they had a previous history of neurological disease. The characteristics and the frequency of different MRI features were investigated. The findings were analyzed separately in patients in intensive care units (ICU) and other departments (non-ICU).ResultsDuring the inclusion period, 1176 consecutive patients were hospitalized for suspected COVID-19. Out of 308 patients with acute neurological symptoms, 73 patients met the inclusion criteria (23.7%) and were included: 35 ICU patients (47.9%) and 38 non-ICU patients (52.1%). The mean age was 58.5 ± 15.6 years, with a male predominance (65.8% vs. 34.2%). Forty-three patients presented pathological MRI findings 2-4 weeks after symptom onset (58.9%), including 17 with acute ischemic infarct (23.3%), 1 with a deep venous thrombosis (1.4%), 8 with multiple microhemorrhages (11.3%), 22 with perfusion abnormalities (47.7%), 3 with restricted diffusion foci within the corpus callosum consistent with cytotoxic lesions of the corpus callosum (CLOCC, 4.1%). Multifocal white matter enhancing lesions were seen in 4 ICU patients (5%). Basal ganglia abnormalities were seen in 4 other patients (5%). The cerebrospinal fluid (CSF) analysis was negative for SARS-CoV-2 in all tested patients (n=39).ConclusionIn addition to cerebrovascular lesions, perfusion abnormalities, CLOCC and ICU-related complications, we identified two patterns including white matter enhancing lesions and basal ganglia abnormalities that could be related to SARS-CoV-2 infection.

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

The diagnostic workup for choreiform movement disorders including Huntington's disease (HD) and those mimicking HD like phenotype is complex. The aim of the present study was to genetically define HD and HD-like presentations in an Indian cohort. We also describe HTT-CAG expansion manifesting as neuroferritinopathy-like disorder in four families from Punjab in India. 159 patients clinically diagnosed as HD and HD-like presentations from various tertiary neurology clinics were referred to our centre (CSIR-IGIB) for genetic investigations. As a first tier test, CAG-TNR for HTT was performed and subsequently HD-negative samples were screened for JPH3 (HDL2), TBP (SCA17), ATN1 (DRPLA), PPP2R2B (SCA12) and GGGGCC expansion in C9orf72 gene. Four families presenting as neuroferritinopathy-like disorder were also investigated for HTT-CAG expansion. 94 of 159 (59%) patients were found to have expanded HTT-CAG repeats. Pathogenic repeat expansion in JPH3, TBP, ATN1 and C9orf72 were not found in HD negative cases. Two patients were positive for SCA12-CAG expansion in pathogenic length, whereas 5 cases harboured TBP-CAG repeats falling in reduced penetrance range of 41- 48 repeats for SCA17. Four unrelated families, presented with atypical chorea and brain MRI findings suggestive of basal ganglia abnormalities mimicking neuroferritinopathy were found to harbour HTT-CAG expansion. We present SCA12 as a new reported phenocopy of HD which should be considered for diagnostic workout along with SCA17 for HD-like syndromes. This study also illustrates the necessity, to consider evolving HD like phenotype, as a clinical diagnosis for cases with initial manifestations depicting neuroferritinopathy.

Brain MRI findings in a dog with late onset epileptic seizure after portosystemic shunt attenuation

A female Tibetan terrier aged five years and six months presented 23 months after portosystemic shunt attenuation due to generalised tonic–clonic epileptic seizure activity. Repeat MRI of the brain showed...

Brain MRI Findings in Severe COVID-19: A Retrospective Observational Study.

BackgroundBrain MRI parenchymal signal abnormalities have been in association with SARS-CoV-2.PurposeDescribe the neuroimaging findings (excluding ischemic infarcts) in patients with severe COVID-19 infection.MethodsThis was a retrospective study of patients evaluated from March 23th, 2020 to April 27th, 2020 at 16 hospitals. Inclusion criteria were: (i) positive nasopharyngeal or lower respiratory tract reverse transcriptase-polymerase chain reaction assays; (ii) severe COVID infection defined as requirement for hospitalization and oxygen therapy; (iii) neurologic manifestations; (iv) abnormal brain MRI. Exclusion criteria were patients with missing or non-contributory data regarding brain MRI or a brain MRI showing ischemic infarcts, cerebral venous thrombosis, or chronic lesions unrelated to the current event. Categorical data were compared using Fisher exact test. Quantitative data were compared using Student’s t-test or Wilcoxon test. A p-value lower than 0.05 was considered significant.ResultsThirty men (81%) and 7 women (19%) met inclusion criteria, with a mean age of 61+/- 12 years (range: 8-78). The most common neurologic manifestations were alteration of consciousness (27/37, 73%), pathological wakefulness when the sedation was stopped (15/37, 41%), confusion (12/37, 32%), and agitation (7/37, 19%). The most frequent MRI findings were: signal abnormalities located in the medial temporal lobe in 16/37 (43%, 95% CI 27-59%) patients, non-confluent multifocal white matter hyperintense lesions on FLAIR and diffusion sequences, with variable enhancement, with associated hemorrhagic lesions in 11/37 patients (30%, 95% CI 15-45%), and extensive and isolated white matter microhemorrhages in 9/37 patients (24%, 95% CI 10-38%). A majority of patients (20/37, 54%) had intracerebral hemorrhagic lesions with a more severe clinical presentation: higher admission rate in intensive care units, 20/20 patients, 100% versus 12/17 patients, 71%, p=0.01; development of the acute respiratory distress syndrome in 20/20 patients, 100% versus 11/17 patients, 65%, p=0.005. Only one patient was positive for SARS-CoV-2 RNA in the cerebrospinal fluid.ConclusionPatients with severe COVID-19 and without ischemic infarcts had a wide range of neurologic manifestations that were be associated with abnormal brain MRIs. Eight distinctive neuroradiological patterns were described.

Brain MRI Findings in Pediatric Anti-NMDAR Encephalitis

Anti–N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a treatable autoimmune disorder. MRI findings have been well described in adults but

Frequency of menstrual abnormalities and their associated neuroimaging findings in women with focal refractory epilepsy.

Patients with refractory epilepsy can suffer from psychological and physical problems. Epilepsy can also be associated with menstruation abnormalities in women. In this paper, we aim to survey women with focal refractory epilepsy who also suffer from menstrual abnormalities. This cross-sectional study was performed in 2018 in Tertiary Epilepsy Center in Kashani Hospital, Isfahan, Iran and Milad hospital, Isfahan, Iran. A total number of 381 patients diagnosed with refractory epilepsy joined the study based on an inclusion and exclusion criteria. Clinical characteristics of epilepsy, menstrual issues and brain MRI findings were assessed. Among 381 women with refractory epilepsy, 250 had refractory focal epilepsy (65.61%), and the others (34.39%) had generalized refractory epilepsy. 132 patients out of 381 had menstrual abnormalities (34.65%). Among 132 women with coexisting refractory epilepsy and menstrual abnormalities, 86 (65.15%) were diagnosed with refractory focal epilepsy, and 46 (34.86%) had generalized refractory epilepsy (p value = 0.041). Oligomenorrhea-hypomenorrhea was the most common type of menstrual abnormality in women with refractory epilepsy seen in 83 (62.87%) (p value = 0.039). The most common brain MRI pathology in women with refractory focal epilepsy was mesial temporal sclerosis (MTS) (39.20%, p = 0.00). We report that almost one-third of women with refractory epilepsy suffer from menstrual disorders, and the most common disorder was Oligomenorrhea-hypomenorrhea, and the most common brain pathology was MTS. It has also been a hypothesis that reproductive dysfunctions are connected to temporal lobe malfunctions, and more specific studies are required in this issue.