Hypothalamic-Bulbar MRI Hyperintensity in Anti-IgLON5 Disease with Serum-Restricted Antibodies: A Case Report and Systematic Review of Literature

2020 ◽  
pp. 1-9
Author(s):  
Matteo Tagliapietra ◽  
Emma Frasson ◽  
Davide Cardellini ◽  
Sara Mariotto ◽  
Sergio Ferrari ◽  
...  
Keyword(s):  
Systematic Review ◽  
Sleep Disorders ◽  
Movement Disorders ◽  
English Literature ◽  
Brain Mri ◽  
Variable Response ◽  
Mri Findings ◽  
Comprehensive Overview ◽  
Presenting Symptoms ◽  
Vocal Cord Paresis

Background: Anti-IgLON5 disease is a rare neurodegenerative tauopathy that displays heterogeneity in clinical spectrum, disease course, cerebrospinal fluid (CSF) findings, and variable response to immunotherapy. Sleep disorders, bulbar dysfunction, and gait abnormalities are common presenting symptoms, and conventional brain MRI scanning is often unrevealing. Objective: To provide a comprehensive overview of the literature and to assess the frequency of symptoms, MRI findings, and treatment response in patients with IgLON5 autoimmunity in the serum and CSF or restricted to serum. Methods: We examined a 65-year-old woman with bulbar-onset IgLON5 disease with serum-restricted antibodies, and we also performed a systematic review of all confirmed cases reported in the English literature. Results: We identified 93 patients, included our case. Clinical data were obtained in 58 subjects, in whom the most frequent symptoms were sleep-disordered breathing, dysphagia, parasomnias, dysarthria, limb or gait ataxia, stridor or vocal cord paresis, movement disorders, and postural instability. Distinct MRI alterations were identified in 12.5% of cases, as opposed to unspecific or unremarkable changes in the remaining patients. T2-hyperintense non-enhancing signal alterations involving the hypothalamus and the brainstem tegmentum were observed only in the present case. Inflammatory CSF was found in half of the cases and serum-restricted antibodies in 4 patients. Treatment with immunosuppressant or immunomodulatory drugs led to sustained clinical response in 19/52 patients. Conclusion: Anti-IgLON5 autoimmunity should be considered in patients with sleep disorders, bulbar syndrome, autonomic involvement, and movement disorders, and high-field brain MRI can be of diagnostic help.

scholarly journals Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review

2021 ◽  
Vol 22 (8) ◽  
pp. 4202
Author(s):  
Carlotta Spagnoli ◽  
Carlo Fusco ◽  
Antonio Percesepe ◽  
Vincenzo Leuzzi ◽  
Francesco Pisani
Keyword(s):  
Movement Disorders ◽  
Time Course ◽  
Neonatal Period ◽  
Age Of Onset ◽  
Brain Mri ◽  
Neonatal Seizure ◽  
Mri Findings ◽  
Epileptic Encephalopathies ◽  
Pathogenic Variants ◽  
Neonatal Onset

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.

scholarly journals Brain MRI findings in COVID-19 patients with PRES: A systematic review

2021 ◽  
Author(s):  
Rubaya Yeahia ◽  
Javin Schefflein ◽  
Patrick Chiarolanzio ◽  
Anna Rozenstein ◽  
William Gomes ◽  
...  
Keyword(s):  
Systematic Review ◽  
Brain Mri ◽  
Mri Findings

A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder

2021 ◽  
Author(s):  
Veronica Frewer ◽  
Courtney P. Gilchrist ◽  
Simonne E. Collins ◽  
Katrina Williams ◽  
Marc L. Seal ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Brain Mri ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Mri Findings ◽  
Monogenic Disorders

Surgical management of giant presacral schwannoma: systematic review of published cases and meta-analysis

2019 ◽  
Vol 31 (5) ◽  
pp. 711-722 ◽  
Author(s):  
Zach Pennington ◽  
Erick M. Westbroek ◽  
A. Karim Ahmed ◽  
Ethan Cottrill ◽  
Daniel Lubelski ◽  
...  
Keyword(s):  
Systematic Review ◽  
Postoperative Complications ◽  
Surgical Approach ◽  
Survival Data ◽  
Tumor Size ◽  
English Literature ◽  
Case Series ◽  
En Bloc ◽  
Free Survival ◽  
Presenting Symptoms

OBJECTIVEGiant presacral schwannomas are rare sacral tumors found in less than 1 of every 40,000 hospitalizations. Current management of these tumors is based solely upon case reports and small case series. In this paper the authors report the results of a systematic review of the available English literature on presacral schwannoma, focused on identifying the influence of tumor size, tumor morphology, surgical approach, and extent of resection (EOR) on recurrence-free survival and postoperative complications.METHODSThe medical literature (PubMed and EMBASE) was queried for reports of surgically managed sacral schwannoma, either involving 2 or more contiguous vertebral levels or with a diameter ≥ 5 cm. Tumor size and morphology, surgical approach, EOR, intraoperative and postoperative complications, and survival data were recorded.RESULTSSeventy-six articles were included, covering 123 unique patients (mean age 44.1 ± 1.4 years, 50.4% male). The most common presenting symptoms were leg pain (28.7%), lower back pain (21.3%), and constipation (15.7%). Most surgeries used an open anterior-only (40.0%) or posterior-only (30%) approach. Postoperative complications occurred in 25.6% of patients and local recurrence was noted in 5.4%. En bloc resection significantly improved progression-free survival relative to subtotal resection (p = 0.03). No difference existed between en bloc and gross-total resection (GTR; p = 0.25) or among the surgical approaches (p = 0.66). Postoperative complications were more common following anterior versus posterior approaches (p = 0.04). Surgical blood loss was significantly correlated with operative duration and tumor volume on multiple linear regression (both p < 0.001).CONCLUSIONSPresacral schwannoma can reasonably be treated with either en bloc or piecemeal GTR. The approach should be dictated by lesion morphology, and recurrence is infrequent. Anterior approaches may increase the risk of postoperative complications.

scholarly journals Incidental Brain MRI Findings in Children: A Systematic Review and Meta-Analysis

2019 ◽  
Author(s):  
V. Dangouloff-Ros ◽  
C.-J. Roux ◽  
G. Boulouis ◽  
R. Levy ◽  
N. Nicolas ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Brain Mri ◽  
Mri Findings

Brain MRI-findings in Ph - negative myeloproliferative disorders

2019 ◽  
Vol 91 (7) ◽  
pp. 29-34 ◽  
Author(s):  
M M Tanashyan ◽  
A L Melikyan ◽  
P I Kuznetsova ◽  
A A Raskurazhev ◽  
A A Shabalina ◽  
...  
Keyword(s):  
Cerebrovascular Disease ◽  
Sinus Thrombosis ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Myeloproliferative Disorders ◽  
Cerebral Venous Sinus Thrombosis ◽  
Mri Findings ◽  
Cerebral Lesions ◽  
Cerebrovascular Pathology ◽  
Underlying Mechanisms

Myeloproliferative disorders (MPD) are accompanied by a high proportion of thrombotic complications, which may lead to cerebrovascular disease (CVD). Aim. To describe MRI-findings in patients with Ph - negative MPD and evaluate any cerebrovascular disease. Materials and methods. We included 104 patients with Ph - negative MPD (age varied between 20 and 58) with clinical correlates of cerebrovascular pathology. Results. Brain MRI showed post - stroke lesions in 20% of patients (7 hemispheric infarcts due to thrombotic occlusion of one of the large cerebral arteries, 14 - cortical infarcts). 37 patients (36%) had vascular cerebral lesions. Cerebral venous sinus thrombosis occurred in 5 patients - in 7% (n=3) of patients with polycythemia vera and 5% (n=2) - in patients with essential thrombocythemia. The incidence of vascular cerebral lesions was associated with higher levels of the following: erythrocyte, platelet count, fibrinogen, and with the decrease in fibrinolytic activity, as well. Conclusion. The pioneering results of the study include the description and analysis of brain MRI-findings in patients with Ph - negative MPD. The underlying mechanisms of cerebrovascular pathology in these patients are associated with certain blood alterations (particularly, hemorheology) which present a major risk factor.

The Patient-Reported Outcomes Measurement Information System in spine surgery: a systematic review

2019 ◽  
Vol 30 (3) ◽  
pp. 405-413 ◽  
Author(s):  
Brittany E. Haws ◽  
Benjamin Khechen ◽  
Mundeep S. Bawa ◽  
Dil V. Patel ◽  
Harmeet S. Bawa ◽  
...  
Keyword(s):  
Systematic Review ◽  
Information System ◽  
Patient Reported Outcomes ◽  
Neck Disability Index ◽  
Measurement Information ◽  
Strong Correlations ◽  
Comprehensive Overview ◽  
Outcomes Measurement ◽  
Patient Reported ◽  
Measurement Information System

OBJECTIVEThe Patient-Reported Outcomes Measurement Information System (PROMIS) was developed to provide a standardized measure of clinical outcomes that is valid and reliable across a variety of patient populations. PROMIS has exhibited strong correlations with many legacy patient-reported outcome (PRO) measures. However, it is unclear to what extent PROMIS has been used within the spine literature. In this context, the purpose of this systematic review was to provide a comprehensive overview of the PROMIS literature for spine-specific populations that can be used to inform clinicians and guide future work. Specifically, the authors aimed to 1) evaluate publication trends of PROMIS in the spine literature, 2) assess how studies have used PROMIS, and 3) determine the correlations of PROMIS domains with legacy PROs as reported for spine populations.METHODSStudies reporting PROMIS scores among spine populations were identified from PubMed/MEDLINE and a review of reference lists from obtained studies. Articles were excluded if they did not report original results, or if the study population was not evaluated or treated for spine-related complaints. Characteristics of each study and journal in which it was published were recorded. Correlation of PROMIS to legacy PROs was reported with 0.1 ≤ |r| < 0.3, 0.3 ≤ |r| < 0.5, and |r| ≥ 0.5 indicating weak, moderate, and strong correlations, respectively.RESULTSTwenty-one articles were included in this analysis. Twelve studies assessed the validity of PROMIS whereas 9 used PROMIS as an outcome measure. The first study discussing PROMIS in patients with spine disorders was published in 2012, whereas the majority were published in 2017. The most common PROMIS domain used was Pain Interference. Assessments of PROMIS validity were most frequently performed with the Neck Disability Index. PROMIS domains demonstrated moderate to strong correlations with the legacy PROs that were evaluated. Studies assessing the validity of PROMIS exhibited substantial variability in PROMIS domains and legacy PROs used for comparisons.CONCLUSIONSThere has been a recent increase in the use of PROMIS within the spine literature. However, only a minority of studies have incorporated PROMIS for its intended use as an outcomes measure. Overall, PROMIS has exhibited moderate to strong correlations with a majority of legacy PROs used in the spine literature. These results suggest that PROMIS can be effective in the assessment and tracking of PROs among spine populations.

scholarly journals Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Mendy M Welsink-Karssies ◽  
Sacha Ferdinandusse ◽  
Gert J Geurtsen ◽  
Carla E M Hollak ◽  
Hidde H Huidekoper ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Newborn Screening ◽  
Clinical Outcomes ◽  
Movement Disorders ◽  
Brain Mri ◽  
Primary Ovarian Insufficiency ◽  
Ovarian Insufficiency ◽  
Classical Galactosemia ◽  
Intellectual Outcome

Abstract Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first to increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying geno- and phenotypes and second to study the association between clinical outcomes and two possible prognostic biomarkers. In addition, the association between abnormalities on brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by a neurologist, serum immunoglobulin G N-glycan profiling and a brain MRI. The biomarkers of interest were galactose-1-phosphate levels and N-glycan profiles, and the clinical outcomes studied were intellectual outcome and the presence or absence of movement disorders and/or primary ovarian insufficiency. Data of 56 classical galactosemia patients are reported. The intellectual outcome ranged from 45 to 103 (mean 77 ± 14) and was &lt;85 in 62%. Movement disorders were found in 17 (47%) of the 36 tested patients. In females aged 12 years and older, primary ovarian insufficiency was diagnosed in 12 (71%) of the 17 patients. Significant differences in N-glycan peaks were found between controls and patients. However, no significant differences in either N-glycans or galactose-1-phosphate levels were found between patients with a poor (intellectual outcome &lt; 85) and normal intellectual outcome (intellectual outcome ≥ 85), and with or without movement disorders or primary ovarian insufficiency. The variant patients detected by newborn screening, with previously unknown geno- and phenotypes and currently no long-term complications, demonstrated significantly lower galactose-1-phospate levels than classical patients (P &lt; 0.0005). Qualitative analysis of the MRI’s demonstrated brain abnormalities in 18 of the 21 patients, more severely in patients with a lower intellectual outcome and/or with movement disorders. This study demonstrates a large variability in clinical outcome, which varies from a below average intelligence, movement disorders and in females primary ovarian insufficiency to a normal clinical outcome. In our cohort of classical galactosemia patients, galactose-1-phosphate levels and N-glycan variations were not associated with clinical outcomes, but galactose-1-phosphate levels did differentiate between classical and variant patients detected by newborn screening. The correlation between brain abnormalities and clinical outcome should be further investigated by quantitative analysis of the MR images. The variability in clinical outcome necessitates individual and standardized evaluation of all classical galactosemia patients.

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