scholarly journals Autoimmune encephalitis with coexistent LGI1 and GABABR1 antibodies: case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Xie ◽  
Jia Wen ◽  
Zhihua Zhao ◽  
Hongbo Liu ◽  
Nanchang Xie
Keyword(s):  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Behavioral Changes ◽  
Aminobutyric Acid ◽  
Slow Response ◽  
Case Presentation ◽  
Positive Serum ◽  
Supplement Therapy ◽  
Moderate Diffusion

Abstract Background Autoimmune encephalitis (AE) with multiple auto-antibodies is of great clinical significance because its complex clinical manifestations and atypical imaging increase the difficulty of diagnosis, differential diagnosis and treatment, which may aggravate the disease, increase the recurrence rate and mortality. The coexistence of anti-Leucinie-rich Glioma Inactivated 1 (LGI1) and anti-γ-aminobutyric acid-beta-receptor 1 (GABABR1) has not been published before. Case presentation We herein present the case of a 60-year-old man with slow response, behavioral changes, psychosis and sleep disorders. Laboratory test included serum hyponatremia, positive serum LGI1 and GABABR1 antibodies using transfected cell-based assays. Electroencephalogram exhibited moderate diffusion abnormality. The patient responded well to steroid impulse treatment and sodium supplement therapy, and did not recur during the follow-up. Conclusions Here we report the first AE characterized by positive LGI1 and GABABR1 antibodies, as well as summarizing AE with multiple auto-antibodies reported so far, hopefully to provide experience for clinical practice.

scholarly journals Autoimmune encephalitis with antibodies against Leucinie-rich Glioma Inactivated 1 and γ-aminobutyric acid-beta-receptor: case report and literature review

2020 ◽  
Author(s):  
Yi Xie ◽  
Jia Wen ◽  
Zhihua Zhao ◽  
Hongbo Liu ◽  
Nanchang Xie
Keyword(s):  
Case Report ◽  
Clinical Practice ◽  
Literature Review ◽  
Autoimmune Encephalitis ◽  
Steroid Treatment ◽  
Aminobutyric Acid ◽  
Slow Response ◽  
Beta Receptor ◽  
Serum Test ◽  
Moderate Diffusion

Abstract A 60-year-old man presented with slow response and psychosis. Apart from hyponatremia, serum test also showed positive anti-Leucinie-rich Glioma Inactivated 1 (anti-LGI1) and anti-γ-aminobutyric acid-beta-receptor (anti-GABABR), and electroencephalogram exhibited moderate diffusion abnormality. The patient responded well to steroid treatment. Here we report the first autoimmune encephalitis(AE) characterized by positive anti-LGI1 and anti-GABABR, as well as summarizing AE with multiple auto-antibodies reported so far, hopefully to provide experience for clinical practice.

scholarly journals Autoimmune encephalitis in a South Asian population

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang
Keyword(s):  
Sri Lanka ◽  
Psychiatric Symptoms ◽  
South Asians ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Asian Population ◽  
South Asian Population ◽  
Clinical Presentations

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.

scholarly journals Identification of NR0B1 Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case Report

2021 ◽  
Author(s):  
XIAOHUI TAO ◽  
LI LIU ◽  
XIAOYUN LIN ◽  
TIAN XU ◽  
HUA YUE ◽  
...  
Keyword(s):  
Mass Density ◽  
Hypogonadotropic Hypogonadism ◽  
Clinical Manifestations ◽  
Osteonecrosis Of The Jaw ◽  
Bone Mass Density ◽  
Insertion Mutation ◽  
Case Presentation ◽  
Skeletal Complications ◽  
Adrenal Hypoplasia

Abstract Background: X-linked congenital adrenocortical hypoplasia (XL-AHC) is a rare disorder, which is characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. However, the skeletal complications caused by the disease were rarely reported, not to mention the treatment.Case presentation: The patient from a big family with XL-AHC was identified carrying a homozygous insertion mutation（p.Thr193GlyfsX13）in DAX-1 gene. The diagnosis of secondary osteoporosis was made after imaging, laboratory and bone mass density examinations. However, he showed a suboptimal response to bisphosphonates during 2 years of follow-up, even suffered from atypical femoral fracture (AFF). Now it had been replaced by menatetrenone, bone healing was satisfactory. Conclusions: We harbored the idea that clinicians should not only focus on typical clinical manifestations of XL-AHC, but also pay attention to the skeletal complications in clinical practice. Conventional anti-osteoporosis drugs may cause side effects such as AFF and osteonecrosis of the jaw (ONJ), which was rare in general osteoporosis patients. In other words, anabolic agent may be a better choice.

scholarly journals A Solitary Giant Neurofibroma of Inguinal Region—A Case Report

2020 ◽  
Author(s):  
Haiying Zhou ◽  
Hui Lu
Keyword(s):  
Tumor Resection ◽  
Clinical Manifestations ◽  
Inguinal Region ◽  
Case Presentation ◽  
Neurogenic Tumors ◽  
Long Time ◽  
Giant Neurofibroma ◽  
History Of ◽  
Recurrence Tendency

Abstract Background:Neurofibroma is a rare nerve sheath tumorofneuroectodermal origin, especially the huge and isolated neurofibroma located in the inguinal region. To our knowledge, no such case has previously been reported.Case presentation:We report a case of 34-year-old male patient with a 4-year history of progressive enlargement of the medial root mass in his left thigh with sitting and standing disorders along with pain. The tumor was completely removed by operation, and pathological diagnosisshowed neurofibroma. There was no obvious neurologic defect after surgery, and no recurrence tendency was found in the follow-up of 2years.Conclusions:For a large solitary mass with slow growth and no malignant clinical manifestations for a long time, clinicians can not rule out the hypothetical diagnosis of neurofibroma, even though its growth site is very rare, such as this case of a huge tumor located in the groin. For neurogenic tumors, early operation should be performed, and the prognosis of patients after tumor resection isexcellent.

CLINICAL MANIFESTATIONS OF ANTI-NMDA RECEPTOR ENCEPHALITIS IN CHILDREN

2021 ◽  
Vol 100 (6) ◽  
pp. 113-120
Author(s):  
R.Ts. Bembeeva ◽  
◽  
U.M. Azizova ◽  
N.N. Zavadenko ◽  
E.S. Ilyina ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Neurological Dysfunction ◽  
Long Term Results ◽  
Impulsive Behavior ◽  
Speech Impairment ◽  
Prodromal Phase ◽  
Nmdar Encephalitis

The aim of the study was to determine the clinical features of anti-NMDAR encephalitis in children. Materials and methods of research: 11 patients were selected from the group of children with autoimmune encephalitis, who met the diagnostic criteria for reliable anti-NMDAR encephalitis. A retro-prospective analysis of clinical symptoms, laboratory, neurophysiological and neuroimaging data, treatment, duration of primary hospitalization and long-term results of treatment was carried out, neuropsychological testing of patients was performed in the follow-up. Results: the age of the patients was 8.5±4.4 years, the gender composition of boys/girls was 1/10 (9.1%/90.9%). The average follow-up period was 17±12 months. In 73% of cases, there was an acute onset of the disease without a prodromal phase and with rapidly growing signs of neurological dysfunction: behavior change (11/100%), epileptic seizures (11/100%), speech impairment (10/90.9%), movement disorders (10/90.9%), disturbed sleep/wakefulness rhythm (9/81.8%), hallucinations (5/45.5%), autonomic disorders (6/54.5%), sensory disturbance (1/9,1%). In 82% of cases, therapy was required in the intensive care unit. When analyzing EEG monitoring in children, the extreme delta brush pattern was revealed in only one patient. Neuroimaging revealed no specific changes in the substance of the brain. The paraneoplastic nature of the disease could not be established in any case. 4 patients (36.36%) had relapses of the disease after 1.5–27 months. from the onset of the disease. All children showed a favorable outcome without a gross neurological deficit, but complaints of increased fatigue, headaches, poor memory, a decrease in vocabulary, and impulsive behavior persisted.

scholarly journals Tubal choriocarcinoma presented as ruptured ectopic pregnancy: a case report and review of the literature

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Shengjie Xu ◽  
Xiaohong Song ◽  
Chengjuan Jin ◽  
Yanli Li
Keyword(s):  
Ectopic Pregnancy ◽  
Tumor Metastasis ◽  
Actinomycin D ◽  
Clinical Manifestations ◽  
Case Presentation ◽  
Delayed Treatment ◽  
Missed Diagnosis ◽  
Β Hcg ◽  
Histopathological Results

Abstract Background Tubal choriocarcinoma is an extremely rare but highly malignant trophoblastic tumor, which may be either gestational or non-gestational in origin. Due to atypical clinical manifestations and symptoms similar to ectopic pregnancy, it is easily to be confused with ectopic pregnancy. In addition, inadequate understanding of this rare disease by clinicians often leads to misdiagnosis or missed diagnosis, which in turn results in delayed treatment or even tumor metastasis. Case presentation This report summarized a case of a woman who was finally diagnosed as tubal choriocarcinoma through the follow-up of serum β hCG levels and histopathological results after undergoing salpingectomy for being misdiagnosed as ectopic pregnancy. Five courses of adjuvant chemotherapy (5-fluorouracil, actinomycin-D, vinorelbine regime) have been administered to the patient in the prevention of any recurrences. During 1-year follow-up, the patient was asymptomatic and presented no evidence of recurrence. Conclusions Tubal choriocarcinoma is easily to be confused with ectopic pregnancy. By analyzing this case and previous related cases, we aimed to provide references for clinicians in the diagnosis and treatment of tubal choriocarcinoma.

scholarly journals Malignant Transformation of Liver Cysts Into Cholangiocarcinoma During Follow-up: Potential Dangers of Liver Cysts

2021 ◽  
Author(s):  
Fu-sheng Liu ◽  
Ke-lu Li ◽  
Yue-ming He ◽  
Zhong-lin Zhang ◽  
Yu-feng Yuan ◽  
...  
Keyword(s):  
Cyst Wall ◽  
Clinical Manifestations ◽  
Liver Cyst ◽  
Common Disease ◽  
Case Presentation ◽  
Liver Cysts ◽  
Cystic Tumors ◽  
Laboratory Examinations ◽  
Malignant Changes

Abstract Background: The liver cyst is a common disease in hepatobiliary surgery. Most patients have no apparent symptoms and are usually diagnosed accidentally during imaging examinations. The vast majority of patients with liver cysts follow a benign course, with very few serious complications and rare reports of malignant changes. Case Presentation: We present two cases of liver cysts that evolved into intrahepatic tumors during the follow-up process. The first patient had undergone a fenestration and drainage operation for the liver cyst, and the cancer was found at the cyst’s position in the third year after the procedure. Microscopically, bile duct cells formed the cyst wall. Tumor cells can be seen on the cyst wall and its surroundings to form adenoid structures of different sizes, shapes, and irregular arrangements, some of which are arranged in clusters. The second patient was regularly rechecked after discovering liver cysts, and a new mass appeared very close to the cyst. The clinical manifestations and laboratory examinations of the two patients lacked specificity, the preoperative diagnosis was unclear, and the postoperative pathology confirmed cholangiocarcinoma.Conclusions: Our cases indicate that liver cysts may lead to the occurrence of malignant intrahepatic cholangiocarcinoma. Therefore, follow-up of particular liver cysts is necessary, and the differential diagnosis of the intrahepatic cystic tumors needs to include cholangiocarcinoma.

scholarly journals Anti-Ri-related Possible Autoimmune Encephalitis may Cause Intellectual and Developmental Disabilities in Pediatric Patients: A Case Report

2021 ◽  
Author(s):  
Zhijie Zhang ◽  
Jing Wu ◽  
Danfen Xu ◽  
Shennan Zhao ◽  
Di Lian ◽  
...  
Keyword(s):  
Inflammatory Markers ◽  
Pediatric Patients ◽  
Viral Infections ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Intellectual And Developmental Disabilities ◽  
Type Ii ◽  
Case Presentation ◽  
Positive Type ◽  
Development Disabilities

Abstract Objective: To describe two rare pediatric cases in which anti-Ri autoantibody-positive (Type II anti-neuronal nuclear antibody; ANNA-2-positive) autoimmune encephalitis occurred with intellectual and development disabilities.. Case presentation: We presented the clinical manifestations, etiological evaluation, and intellectual assessment of two ANNA-2-positive children and the clinical improvement after empirical immunotherapy. A 2-year-old girl with hyperactivity, agitation, and hand tremors and a 6-month-old boy who had dystonia were both diagnosed with intellectual and development disability. Both children tested positive for ANNA-2 and the serological inflammatory markers. Considering possible Ri antibody associated autoimmune encephalitis, empirical immunotherapy was done for both patients, intellectual disability of them improved to some extent. Conclusions: Although ANNA-2 has been mostly reported in adults with paraneoplastic syndrome, we report two ANNA-2-positive pediatric cases diagnosed as possible autoimmune encephalitis due to viral infections. These cases suggested that disruption of the immune system due to viral infection may lead to ANNA-2 positive status and contribute to intellectual and development disability in pediatric cases.

scholarly journals Symptomatic pulmonary sclerosing hemangioma: a rare case of a solitary pulmonary nodule in a woman of advanced age

2019 ◽  
Vol 47 (5) ◽  
pp. 2302-2308 ◽  
Author(s):  
Zhu-Qing Yuan ◽  
Qian Wang ◽  
Min Bao
Keyword(s):  
Symptom Relief ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Large Mass ◽  
Advanced Age ◽  
Case Presentation ◽  
Sclerosing Hemangioma ◽  
Pulmonary Sclerosing Hemangioma ◽  
History Of

Background Pulmonary sclerosing hemangioma (PSH) is a rare tumor that usually develops in middle-aged Asian women. PSH has four histological types (hemorrhagic, sclerotic, solid, and papillary) and often grows slowly in a lower lobe of the lung. Preoperative misdiagnosis frequently occurs because of the absence of specific clinical manifestations and imaging findings. Few reports have described PSH in women of advanced age. Case presentation: A 75-year-old woman presented to our hospital in China with a 5-day history of productive cough and intermittent hemoptysis. Computed tomography indicated bronchiectasis and a large mass in the left inferior lobe of the lung. Treatment of the bronchiectasis provided no symptom relief. The hemoptysis resolved following left lower pulmonary lobectomy, and PSH was pathologically diagnosed following surgery. At the time of this writing (after 6 months of follow-up), the tumor had not recurred, no metastases had been detected, and close follow-up was ongoing. Conclusions Both bronchiectasis and PSH can cause hemoptysis. This case demonstrates that PSH should be included as a differential diagnosis of hemoptysis in women of advanced age. For patients with chronic hemoptysis, the diagnosis of PSH should be considered if the therapeutic effect of bronchiectasis is poor.

scholarly journals Rare Cardiac Myxoma with A Hard Texture: A Case Report

2020 ◽  
Author(s):  
Hongfei Xu ◽  
Yanjia Gu ◽  
Liang Ma ◽  
Yiming Ni ◽  
Weidong Li
Keyword(s):  
Elective Surgery ◽  
Cardiac Myxoma ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Cardiac Tumors ◽  
Rare Type ◽  
Primary Tumors ◽  
Case Presentation ◽  
Preoperative Examination

Abstract Background: Primary tumors of the heart are uncommon but not rare. Myxoma comprises 50% of all benign cardiac tumors in adults and 15% of such tumors in children. Cardiac myxoma is usually soft in texture and has a friable or villous surface, which tends to be associated with embolic events. It is also rare for myxoma to be full of calcium and metastatic bone deposits.Case presentation: We herein present a 58-year-old female patient with cardiac space-occupying lesion within the left atrium, and the lesion is lubricous and hard. Her only symptoms were hypertension, dizziness, and chest stuffiness. After surgical resection, we confirmed that the lesion was atrial myxoma by histopathology examination. The patient recovered uneventfully and was discharged. A 2-year follow-up exam showed no evidence of tumor recurrence.Conclusions: Cardiac myxoma is rare and has various clinical manifestations. It is usually friable and has an irregular surface, making embolic manifestations one of the most common complications. Consequently, immediate surgical excision is suggested upon diagnosis. In our case, the patient had a rare type of cardiac myxoma, which had a hard texture and lubricous surface. In our opinion, this case has a low risk of embolism. We prefer elective surgery rather than emergency surgery to perfect the preoperative examination for this kind of patient.

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