scholarly journals Clinical Characteristics and Prognosis of Anti-Alpha- Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic Acid Receptor Encephalitis

Author(s):  
Zhe Zhang ◽  
Siyuan Fan ◽  
Haitao Ren ◽  
Lixin Zhou ◽  
Hongzhi Guan

Abstract Background Encephalitis associated with antibodies against alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is an extremely rare type of antibody-mediated encephalitis. This research aims to investigate the clinical characteristics and prognosis of anti-AMPAR encephalitis. Methods This retrospective study enrolled nine patients with anti-AMPAR encephalitis. Demographic information, clinical manifestations, laboratory and radiological findings, treatment and response were collected and analyzed. These patients were followed up with an average period of 72 weeks to gather prognostic information. Results Nine patients (7 females and 2 males) were enrolled with the mean age of disease onset as 59 years old. Three clinical syndromes, including limbic encephalitis (n=7; 78%), pure amnesia (n=1; 11%) and fulminant encephalitis (n=1; 11%) were identified. New symptoms of dysphagia and deafness were identified in the clinical spectrum of anti-AMPAR encephalitis. All patients had positive blood AMPAR antibodies, and six of them (67%) had paired positive antibodies in cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) were abnormal in 75% of the patients with no specific patterns recognized. Six patients (67%) had tumors, including lung cancers or thymomas. After immunotherapy and oncotherapy, partial improvement of neurological symptoms was observed among all 6 patients with available records during their hospitalization. During a mean follow-up of 72 weeks, 3 patients had marked improvement of modified Rankin Scale (mRS), one patient had unchanged mRS, 4 patients died and the other one was lost. Conclusions Anti-AMPAR encephalitis mainly presents as limbic encephalitis. Anti-AMPAR encephalitis is paraneoplastic in 67% cases and intensive screening for tumors is recommended for all anti-AMPAR patients. Although patients showed a good short-term therapeutic response, the overall prognosis was not satisfactory.

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhe Zhang ◽  
Siyuan Fan ◽  
Haitao Ren ◽  
Lixin Zhou ◽  
Hongzhi Guan

Abstract Background Encephalitis associated with antibodies against alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is an extremely rare type of antibody-mediated encephalitis. This research aims to investigate the clinical characteristics and prognosis of anti-AMPAR encephalitis. Methods This retrospective study enrolled nine patients with anti-AMPAR encephalitis. Demographic information, clinical manifestations, laboratory and radiological findings, treatment and response were collected and analyzed. These patients were followed up with an average period of 72 weeks to gather prognostic information. Results Nine patients (7 females and 2 males) were enrolled with a mean age at disease onset of 59 years old. Three clinical pictures, including limbic encephalitis (n = 7; 78%), pure amnesia (n = 1; 11%) and fulminant encephalitis (n = 1; 11%) were identified. New symptoms of dysphagia and deafness were identified in the clinical spectrum of anti-AMPAR encephalitis. All patients had positive blood AMPAR antibodies, and six of them (67%) had paired positive antibodies in cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) was abnormal in 75% of the patients with no specific patterns recognized. Six patients (67%) had tumors, including lung cancers and thymomas. After immunotherapy and oncotherapy, partial improvement of neurological symptoms was observed among all 6 patients with available records during their hospitalization. After a mean follow-up of 72 weeks, 3 patients had marked decrease of modified Rankin Scale (mRS) score, 1 patient had unchanged mRS score, 4 patients died and the other one was lost. Conclusions Anti-AMPAR encephalitis mainly presents as limbic encephalitis, and is paraneoplastic in 67% of cases. Thus, intensive screening for tumors is recommended for all anti-AMPAR patients. Although patients showed a good short-term therapeutic response, the overall prognosis was not satisfactory.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1210.2-1210
Author(s):  
S. Zheng ◽  
P. Y. Lee ◽  
Y. Huang ◽  
Q. Huang ◽  
S. Chen ◽  
...  

Background:The incidence of juvenile gout is increasing in China. The clinical manifestations of juvenile gout and treatment strategies to reduce uric acid levels in children are not well described due to the limited number of cases in the past.Objectives:We aim to describe the clinical characteristic of children with gout and study the treatment response to febuxostat.Methods:These studies were approved by the Institutional Review Board of Guangdong Second provincial General Hospital. We performed a retrospective analysis on 98 juvenile gout patients (age ≤ 18 years) evaluated in our hospital from Jan 2016 to Dec 2019. We analyzed clinical parameters, laboratory data and treatment response.Results:The average age of disease onset in children with gout was 15.2 ± 2.0 years and the youngest patient was 9 years old. The majority of patients were male (94/98) and mean serum uric acid (sUA) level were 705.8 ± 145.7 μmol/L (reference range <420 μmol/L). More than half of the cohort had normal body mass index (mean 24.7 ± 4.7 kg/m2; range 14.9 to 36.1 kg/m2). Renal function was generally normal in these children (serum creatinine 96.9 ± 17.8 μmol/L). In terms of joint manifestations, juvenile gout preferentially affected finger joints (29%), ankles (28%) and metatarsal joints (MTP; 20%). The most frequent sites of initial gout attack were ankles (45%), MTP (39%) and fingers (6%). In addition, tophi can occur in pediatric patients and typically develop in the finger joints (54%). Tophi was observed in about 25% of juvenile gout patients, typically within the first two years of disease onset (mean duration 1.7 ± 0. 9 years). We have found tophi in children as young as 10 years of age.For treatment for chronic hyperuricemia, 32 patients (32.7%) were started on febuxostat and 5 patients (5.1%) received allopurinol. A decrease in sUA was observed in both groups after the first month of treatment (febuxostat: baseline 690.4 ± 99.7 μmol/L to 482.7 ± 140.8 μmol/L vs. allopurinol: baseline 728.8 ±112.8 μmol/L to 565.0 ± 116.7 μmol/L, P=0.477). Serum uric acid of 6 patients in the febuxostat group (none in the allopurinol group) dropped below 360 μmol/L. There were no statistical differences in Cr, AST and ALT between the groups. During follow-up after 3 months, further decline in sUA level were observed in patients treated with febuxostat (409.5 ± 83.4, compared with baseline P<0.001).Conclusion:Juvenile gout has a different pattern of joint involvement and is less associated with elevated BMI compared to gout in adults. We show that febuxostat is effective in reducing uric acid levels in juvenile gout. These findings will help clinicians better understand the clinical manifestations and treatment response in juvenile gout.Figure 1Compared treatment response with allopurinol and febuxostatReferences:[1]Kishimoto K, Kobayashi R, Hori D, et al. Febuxostat as a Prophylaxis for Tumor Lysis Syndrome in Children with Hematological Malignancies. Anticancer Res. 2017 Oct;37(10):5845-5849.[2]Lu, C.C., et al. Clinical characteristics of and relationship between metabolic components and renal function among patients with early-onset juvenile tophaceous gout. J Rheumatol, 2014. 41(9): p. 1878-83.Disclosure of Interests:None declared


2022 ◽  
Vol 12 ◽  
Author(s):  
Ailiang Miao ◽  
Yongwei Shi ◽  
Xiaoshan Wang ◽  
Jianqing Ge ◽  
Chuanyong Yu

Objectives:Anti-dipeptidyl–peptidase–like protein 6 (anti-DPPX) encephalitis an extremely rare type of immune-mediated encephalitis. This study aimed to analyze the electroclinical characteristics and prognosis of anti-DPPX encephalitis.Methods:Five patients (all male) with anti-DPPX encephalitis in East China from January 2016 to October 2021 was retrospective analyzed. Electroclinical features and outcomes were reviewed.Results:All five patients were male. The media age at disease onset was 32 years old with a range of 14–56 years. The main symptoms included psychiatric disturbances (2/5), amnesia (4/5), confusion (3/5), and seizures (3/5). Migrating myoclonus were identified in patient 4 with positive DPPX and contactin-associated protein-like 2 antibodies in blood. All of the patients had positive DPPX antibodies in serum. Only one of them had positive antibody in the cerebrospinal fluid. EEG showed diffuse slowing in two patients, but no epileptiform discharges were observed. Eighty percent (4/5) of the patients showed normal brain magnetic resonance imaging. After immunotherapy, improvement of neuropsychiatric symptoms from all of the patients was observed. Over a mean follow-up of 30.8 weeks, all of the patients had marked improvement in the modified Rankin Scale. To date, no tumors were not observed in any patients.Conclusions:Anti-DPPX encephalitis mainly presents as neuropsychiatric symptoms. Cooperation of DPPX antibodies and CASPR2 antibodies might have contributed to the migration of myoclonus in the patient 4. Prompt immunotherapy often results in improvement.


2021 ◽  
Vol 12 ◽  
Author(s):  
Shan Qiao ◽  
Huai-kuan Wu ◽  
Ling-ling Liu ◽  
Ran-ran Zhang ◽  
Mei-ling Wang ◽  
...  

Objective: This study aimed to investigate epidemiological characteristics, clinical manifestations, and long-term outcomes of patients with autoimmune encephalitis (AE) in the east of China.Methods: From January 2015 to December 2019, 226 potential AE patients were recruited from five clinical centers, and a total of 185 patients who met the diagnostic criteria were included in the study. We retrospectively reviewed clinical features, auxiliary examinations, details of treatments, and outcomes of AE, and identified risk factors of poor prognosis. Modified Rankin Scale scores were used to evaluate neurological function, and scores of 3–6 indicated a poor-prognosis.Results: Patients with five main subtypes of AE were enrolled in the study, as follows: anti-NMDAR (79), anti-LGI1 (55), anti-CASPR2 (30), anti-GABABR (16), and anti-AMPAR (5). Among 185 patients, 58.38% (108/185) were male and 41.62% (77/185) were female. The median age at disease onset was 41 years (interquartile range, 17–62). The most common clinical manifestations of AE were seizures (146, 78.92%) and memory deficit (123, 66.49%). A total of 95 (51.35%) patients had abnormal brain magnetic resonance imaging results. Electroencephalographic findings were abnormal in 131 (70.81%) patients, and 168 (90.81%) and 26 (14.05%) patients were treated with first- and second-line immunotherapies, respectively. All surviving patients were followed-up for at least 1 year (range 12–36 months). Good clinical outcomes were achieved in 117 (63.24%), while 68 (36.76%) patients had a poor prognosis. Further, 33 (17.84%) patients relapsed and 10 (5.41%) died within 1 year post-discharge. Older patients tended to have a poorer prognosis, and the occurrence of mental behavioral disorders, movement disorders, disturbance of consciousness, central hypoventilation, and tumors were overrepresented in the poor-prognosis group.Conclusions: AE is a treatable disease, and most patients have a good prognosis. There are differences in the clinical manifestations of patients with different AE subtypes. Some with AE will relapse, and long-term follow-up is of great significance for further research.


2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Amir M. Torabi

Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI) that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI), and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well.


2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Shan He ◽  
Zhuang Tian ◽  
Hongzhi Guan ◽  
Jian Li ◽  
Quan Fang ◽  
...  

Abstract Background Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. This study was performed to describe the clinical characteristics and natural history of Chinese patients to improve clinical awareness of this condition. Methods In this study, we retrospectively investigated 23 patients with a confirmed diagnosis of hereditary ATTR-CM in Peking Union Medical College hospital from From January 1, 2000 to December 31, 2018. Results In all, 16 patients (69.6%) were males, the median age at disease onset was 45 (33,55) years old. The median duration from symptom onset to diagnosis was 30 (18,46) months. Phenotypes were classified as exclusively cardiac (n = 1, 4.3%) and mixed type (n = 22, 95.6%). The common mutations were Gly47Arg (7 patients [30.4%]) and Val30Ala (3 patients [13%]). Ventricular hypertrophy was observed in 23 (100%) patients, the mean thickness of the ventricular septum was 16.1 ± 3.9 mm, the mean thickness of the left ventricular posterior wall was 15.1 ± 2.8 mm. The mean left ventricle ejection fraction (LVEF) was 57.3 ± 11.9% and only 5 patients (21.7%) had LVEF < 50%. 18 (78.3%) patients had abnormal electrocardiography and the most common feature was pseudoinfarct pattern (56.5%). Overall survival at 12, 24, 36, 48, and 60 months after diagnosis was 77.8, 55.6, 38.9, 27.8, and 11.1%, respectively. Survival was better in patients with EF ≥50% than in those with EF < 50% [log Rank (Mantel-Cox), χ2 = 4.03, P = 0.045]. Conclusions The clinical characteristics of ATTR are heterogeneous: men are more likely to be affected and onset symptoms are not obvious in the heart and mainly include peripheral neuropathy and autonomic neuropathy; however, LV hypertrophy, especially a thick ventricular septum and posterior wall with preserved LVEF, are often detected on echocardiography. Abnormal ECG manifestations are common. The prognosis is poor, and patients with EF > 50% have better survival. Clinicians should be more aware of the complex clinical profile of ATTR amyloidosis to avoid misdiagnosis in practice.


2021 ◽  
Author(s):  
Ali Dehghani ◽  
Ehsan Razmara ◽  
Maryam Rasoulinezhad ◽  
Fatemeh Bitarafan ◽  
Ali Reza Tavasoli ◽  
...  

Abstract BackgroundPhospholipase A-2-activating protein (PLAP) has essential roles in biological pathways. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is a complex neurodevelopmental disease caused by defects in the PLAA gene (MIM: 603873). Herein, we aimed to detect the potential genetic factors contributing to the NDMSBA phenotype in a 2.5-year-old affected male in an Iranian consanguineous family.ResultsAfter meticulously performing neuroimaging and clinical examinations, due to heterogeneity of neurodevelopmental diseases, the proband was subjected to paired-end whole-exome sequencing (WES). The brain magnetic resonance imaging (MRI) revealed lissencephaly, polymicrogyria, severe subcortical, deep and deep white matter signal abnormalities, thinning of the corpus callosum, and severe vermis atrophy. Interestingly, we detected a novel homozygous missense variant, NM_001031689.3:c.2264A>G;p.(Asp755Gly) in the PLAA gene. To the best of our knowledge, this variant is the second one identified within the PUL domain (PLAP, Ufd3p, and Lub1p) of PLAP and also the sixth reported variant throughout the PLAA gene. In silico analyses underscored the pathogenicity of the variant. ConclusionsThe present study demonstrated severe cerebral and cerebellar white matter signal abnormalities, hypertelorism, strabismus, and drooling in the proband as the novel manifestation of NDMSBA that in turn caused by a novel likely pathogenic missense variant. Further studies are required to confirm how this variant contributes to NDMSBA.


2021 ◽  
Author(s):  
Dong Ah Lee ◽  
Bong Soo Park ◽  
Junghae Ko ◽  
Il Hwan Kim ◽  
Jin Han Park ◽  
...  

Abstract Background: There have been no studies evaluating the glymphatic system function in patients with migraine. In this study, we evaluated the alterations in glymphatic system function in patients with migraine compared to healthy controls using a diffusion tensor imaging (DTI) analysis along the perivascular space (DTI-ALPS) method. We also investigated the differences in glymphatic system function between migraine patients with and without aura using the ALPS method.Methods: We prospectively enrolled patients with migraine and healthy controls. All brain magnetic resonance imaging (MRI), including DTI, in participants, patients with migraine, and healthy controls were obtained using the same MRI scanner. We calculated the ALPS index and compared the differences in the ALPS index between patients with migraine and healthy controls, and between migraine patients with and without aura. In addition, we conducted a correlation analysis between glymphatic system function and the clinical characteristics of migraine.Results: We enrolled 92 patients with migraine and 80 healthy controls. There were no significant differences in the ALPS index between patients with migraine and healthy controls (1.655 vs. 1.713, p = 0.233), and between migraine patients with and without aura (1.690 vs. 1.645, p = 0.601). There were no significant correlations between the ALPS index and clinical characteristics of migraine, including age (r = -0.070, p = 0.507), age of onset (r = 0.066, p = 0.552), disease duration (r = -0.115, p = 0.306), attack frequency (r = -0.049, p = 0.668), and headache intensity (r = -0.003, p = 0.976).Conclusions: There was no glymphatic system dysfunction in patients with migraine. In addition, there were no differences in glymphatic system function between migraine patients with and without aura. We also demonstrated the feasibility of the ALPS method, which can be used for further research on various neurological diseases.


2013 ◽  
Vol 19 (11) ◽  
pp. 1493-1498 ◽  
Author(s):  
Su-Hyun Kim ◽  
So-Young Huh ◽  
Woojun Kim ◽  
Min Su Park ◽  
Suk-Won Ahn ◽  
...  

Background: Multiple sclerosis (MS) in Asia is thought to have different clinical characteristics from MS in Western countries; however, previous studies in Asia were performed without properly differentiating neuromyelitis optica (NMO) from MS. Objectives: To evaluate the clinical characteristics of MS in Korea after careful exclusion of potential explanations other than MS, particularly NMO spectrum disorder (NMOSD). Methods: This study is a retrospective review of consecutive MS patients attending five referral hospitals in Korea. All patients’ MS diagnoses were re-evaluated. Results: Of the 105 patients, 70 were female and 35 were male. The mean age of onset was 30.4 years and the mean disease duration was 5.4 years. On initial magnetic resonance imaging (MRI), 58% and 64% fulfilled the criteria for dissemination in space for the 2005 and 2010 McDonald criteria, respectively. Spinal cord lesions were observed in 78% of patients, primarily present as multiple small lesions with a mean length of 0.9 vertebral segments. The median time from disease onset to an Expanded Disability Status Scale 6 was 20 years. Conclusions: After careful exclusion of NMOSD, we found that the clinical pattern of MS in Korea does not fundamentally differ from that seen in Western countries.


2021 ◽  
Vol 49 (3) ◽  
pp. 030006052110001
Author(s):  
Siting Wu ◽  
Zengluan Xing ◽  
Jiacai Lin ◽  
Hui Liu ◽  
Fang Cui ◽  
...  

After reviewing the diagnosis and treatment process of a patient with active cancer who experienced wake-up stroke, we have summarized the clinical manifestations, laboratory examination results, imaging features, pathological results, and treatment in this report. Patients with active cancer who experience wake-up stroke often have mild neurological deficits at the time of onset. For the patient in this study, laboratory test results were mainly characterized by abnormal coagulation function and elevated tumor markers. The brain magnetic resonance imaging (MRI) images were characterized by involvement of both the arterial and venous systems. Thrombolytic therapy during the window period can improve the symptoms of neurological deficits. Overall, anticoagulation therapy was safe and effective in our patient.


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