Evidencia de respuesta inmune intratecal poliespecífica en pacientes pediátricos con procesos neuroinflamatorios / Evidence of polyspecific intrathecal immune response in pediatric patients with neuroinflammatory processes

Introducción: La síntesis intratecal de anticuerpos contra algunos virus neurotrópicos como sarampión, rubéola y virus varicela zoster en pacientes con esclerosis múltiple, con una frecuencia muy superior a la esperada, llevó a la introducción de la reacción sarampión-rubéola-varicela. La presencia de anticuerpos específicos detectados en el líquido cefalorraquídeo contra dos o más de estos virus apoyó el diagnóstico no solo de la esclerosis múltiple, sino de otras enfermedades autoinmunes que involucran al sistema nervioso central. Objetivo: Identificar la presencia de respuesta inmune intratecal poliespecífica en pacientes pediátricos con proceso neuroinflamatorio independiente del agente biológico involucrado. Presentación de caso: Se estudiaron ocho niños a los cuales, mediante inmunodifusión radial simple y por ensayo inmunoenzimático, se les cuantificaron las concentraciones de inmunoglobulina G y albúmina en suero, y líquido cefalorraquídeo, lo que permitió determinar la síntesis intratecal de inmunoglobulinas. Por métodos inmunoenzimáticos se cuantificaron las concentraciones de IgG específica contra los virus estudiados en suero y líquido cefalorraquídeo, con lo cual se determinó el índice de anticuerpo específico. La reacción sarampión-rubéola-varicela fue positiva en cinco pacientes y los valores medios de este índice se encontraron por encima de 1,5 para citomegalovirus y virus herpes simple. Conclusiones: Se identificaron repuestas neuroinmune antiviral poliespecífica en pacientes pediátricos con proceso neuroinflamatorio(AU)

Introduction: The intrathecal synthesis of antibodies against some neurotropic viruses such as measles, rubella and varicella zoster virus in patients with multiple sclerosis, with a frequency much higher than expected, led to the introduction of the measles-rubella-varicella reaction. The presence of specific antibodies detected in cerebrospinal fluid against two or more of these viruses supported the diagnosis not only of multiple sclerosis, but also of other autoimmune diseases involving the central nervous system. Objective: To identify the presence of polyspecific intrathecal immune response in pediatric patients with neuroinflammatory process independent of the biological agent involved. Case presentation: Eight children were studied and their serum and cerebrospinal fluid immunoglobulin G and albumin concentrations were quantified by simple radial immunodiffusion and enzyme-linked immunosorbent assay to determine intrathecal immunoglobulin synthesis. The concentrations of specific IgG against the viruses studied in serum and cerebrospinal fluid were quantified by enzyme-linked immunosorbent assay methods, thus determining the specific antibody index. The measles-rubella-varicella reaction was positive in five patients and the mean values of this index were found to be above 1.5 for cytomegalovirus and herpes simplex virus. Conclusions: Polyspecific antiviral neuroimmune antiviral responses were identified in pediatric patients with neuroinflammatory process(AU)

GABAA receptor encephalitis associated with human parvovirus B19 virus infection: Case report.

RATIONALE: Human parvovirus B19 (B19) infection can produce a spectrum of clinical syndromes, including neurological manifestations, most notably encephalitis. Although symptoms suggestive of autoimmune disease in patients with B19 infection have been previously described, a clear association of autoimmune encephalitis with B19 infection has yet to be established. PATIENT CONCERNS: We describe the case of a 6-year-old boy who was hospitalized due to status epilepticus, which evolved to super-refractory status epilepticus that was only mildly responsive to anticonvulsant drugs. DIAGNOSIS: A cerebrospinal fluid study identified slight pleocytosis and B19 positivity. A subsequent autoimmunity cerebrospinal fluid study revealed the presence of anti-γ-aminobutyric acid type A (GABAA) receptor antibodies. INTERVENTIONS: After pulse therapy with methylprednisolone and continuous therapy with prednisolone with cyclosporine, the patient experiencing seizure persistence with disordered motor function manifestations and only minor improvement in consciousness, and so, plasmapheresis was performed. With continued immunosuppressive treatments with cyclosporine and prednisolone, the patient's clinical picture showed progressive improvement, with good control of seizures. Although the patient tolerated withdrawal of the anticonvulsant drugs well, he developed seizures when corticosteroid therapy withdrawal was attempted, so was started on azathioprine. OUTCOMES: After immunosuppressive therapy, the patient evolved with complete remission of symptoms, normal neurological examination and age-appropriate neuropsychomotor development. LESSONS: The present case characteristics, together with previous findings, support the hypothesis that autoimmunity may be triggered by extensive antigen release due to degeneration of infected neurons. This case highlights the importance of early clinical suspicion and treatment.

Encephalitis Induced by Durvalumab During Treatment of Metastatic Small-Cell Lung Cancer: Illustrative Case and Review of the Literature.

The immune checkpoint inhibitors have improved the standards of care in cancer treatment and have dramatically improved patient prognoses. These new antibodies turned to be an integral part of the standard of care for metastatic small-cell lung cancer. Platinum-based chemotherapy combined with checkpoint inhibitors, resulted in statistically significant improvement of progression free survival and overall survival. Immune checkpoint inhibitors immune-related adverse events have been observed and reported as a consequence of administering these innovative treatment drugs. Neurological immune-related adverse events are rare complications; however, they can be potentially fatal, particularly encephalitis. This report describes a 66-year-old female who received Durvalumab for metastatic small-cell lung cancer. Following 3 cycles of treatment, she developed encephalitis.

Limbic encephalitis in a patient with systemic lupus erythematosus successfully treated with high-dose glucocorticoids and intravenous cyclophosphamide therapy: the potential pathogenicity of anti-glutamate receptor antibodies.

Limbic encephalitis (LE) is a clinically defined syndrome characterised by an acute or subacute impairment of short-term memory, seizures and psychiatric symptoms (i.e. depression, anxiety and hallucination). LE could come from certain conditions where the neuropsychiatric systemic lupus erythematosus (NPSLE) of the multiple central nervous system is layered. In this report, we describe a 46-year-old Japanese female with SLE that suddenly presented with seizures, sensory aphasia and pseudobulbar affect. She was diagnosed with severe NPSLE presenting clinical LE (LE-SLE) by excluding malignancies, infectious encephalitis and symptomatic epilepsy using diffusion-weighted magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT). The patient showed a rapid response to treatment with methylprednisolone pulses followed by high-dose prednisolone and intravenous cyclophosphamide. She had elevated anti-glutamate receptor antibodies (anti-GluRs) in her serum and cerebrospinal fluid (CSF) on admission, and the titres decreased to a normal range at a one-year follow up. Our case highlights the importance of measuring anti-neuron antibodies including anti-GluRs in NPSLE patients, and suggests that the reduction of these pathogenic autoantibodies in serum or CSF could be a prognostic marker.

CaV α2δ Autoimmune Encephalitis: A Novel Antibody and its Characteristics.

OBJECTIVE: Discovery of a novel antibody would enable diagnosis and early treatment of autoimmune encephalitis. The aim was to discover a novel antibody targeting a synaptic receptor and characterize the pathogenic mechanism. METHOD: We screened for unknown antibodies in serum and cerebrospinal fluid samples from autoimmune encephalitis patients. Samples with reactivity to rat brain sections and no reactivity to conventional antibody tests underwent further processing for antibody discovery, using immunoprecipitation to primary neuronal cells, mass-spectrometry analysis, an antigen-binding assay on an antigen-overexpressing cell line, and an electrophysiological assay with cultured hippocampal neurons. RESULTS: Two patients had a novel antibody against CaV α2δ (voltage-gated calcium channel alpha-2/delta subunit). The patient samples stained neuropils of the hippocampus, basal ganglia, and cortex in rat brain sections and bound to a CaV α2δ-overexpressing cell line. Knockdown of CaV α2δ expression in cultured neurons turned off the immunoreactivity of the antibody from the patients to the neurons. The patients were associated with preceding meningitis or neuroendocrine carcinoma and responded to immunotherapy. In cultured neurons, the antibody reduced neurotransmitter release from presynaptic nerve terminals by interfering with tight coupling of calcium channels and exocytosis. INTERPRETATION: Here, we discovered a novel autoimmune encephalitis associated with anti-CaV α2δ antibody. Further analysis of the antibody in autoimmune encephalitis might promote early diagnosis and treatment. ANN NEUROL 2021;89:740-752.

Immune-mediated neurological syndromes in SARS-CoV-2-infected patients.

BACKGROUND: Evidence of immune-mediated neurological syndromes associated with the severe acute respiratory syndrome coronavirus (SARS-CoV-2) infection is limited. We therefore investigated clinical, serological and CSF features of coronavirus disease 2019 (COVID-19) patients with neurological manifestations. METHODS: Consecutive COVID-19 patients with neurological manifestations other than isolated anosmia and/or non-severe headache, and with no previous neurological or psychiatric disorders were prospectively included. Neurological examination was performed in all patients and lumbar puncture with CSF examination was performed when not contraindicated. Serum anti-gangliosides antibodies were tested when clinically indicated. RESULTS: Of the 349 COVID-19 admitted to our center between March 23rd and April 24th 2020, 15 patients (4.3%) had neurological manifestations and fulfilled the study inclusion/exclusion criteria. CSF examination was available in 13 patients and showed lymphocytic pleocytosis in 2 patients: 1 with anti-contactin-associated protein 2 (anti-Caspr2) antibody encephalitis and 1 with meningo-polyradiculitis. Increased serum titer of anti-GD1b antibodies was found in three patients and was associated with variable clinical presentations, including cranial neuropathy with meningo-polyradiculitis, brainstem encephalitis and delirium. CSF PCR for SARS-CoV-2 was negative in all patients. CONCLUSIONS: In SARS-Cov-2 infected patients with neurological manifestations, CSF pleocytosis is associated with para- or post-infectious encephalitis and polyradiculitis. Anti-GD1b and anti-Caspr2 autoantibodies can be identified in certain cases, raising the question of SARS-CoV-2-induced secondary autoimmunity.

Influencing electroclinical features and prognostic factors in patients with anti-NMDAR encephalitis: a cohort follow-up study in Chinese patients.

The clinical manifestations of patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis in East China and factors associated with prognosis were analyzed. A retrospective study of 106 patients (58 females; 48 males) with anti-NMDAR encephalitis in East China was carried out from June 2015 to February 2019. Clinical features and factors influencing outcomes were reviewed. Behavioral changes were observed in 74.5% (79/106) of patients, and comprised the initial symptoms in 61.3% (65/106). Seizures were observed in 67% (71/106) of patients, and served as initial symptoms in 31.1% (33/106). A total of 54.9% (39/71) of seizures were focal seizures. More clinical symptoms were observed in female patients than in male patients (P = 0.000). Similarly, background activity (BA) with high cerebrospinal fluid (CSF) antibody titers at the peak stage was more severe in female patients than in male patients (P = 0.000). The Binary logistic regression and receiver operating characteristic (ROC) curve analyses revealed the factors associated with poor outcomes included consciousness disturbance (OR 4.907, 95% CI 1.653-14.562, P = 0.004; area: 65.4%, sensitivity: 44.2%, specificity: 86.5%, P = 0.014), EEG BA (OR 3.743, 95% CI 1.766-7.932, P = 0.001; area: 76.6%, sensitivity: 73%, specificity: 75%, P = 0.000), number of symptoms (OR 2.911, 95% CI 1.811-4.679, P = 0.000; area: 77.1%, sensitivity: 59.5%, specificity: 78.6%, P = 0.000) and CSF antibody titer (OR 31.778, 95% CI 8.891-113.57, P = 0.000; area: 83.9%, sensitivity: 89.2%, specificity: 78.6%, P = 0.000). EEG BA and number of symptoms were associated with CSF antibody titers. Consciousness disturbances, EEG BA, number of symptoms and CSF antibody titers served as predictors of poor outcomes.

Anti-NMDA receptor encephalitis associated with ovarian tumor: the gynecologist point of view.

BACKGROUND: Anti-NMDA receptor antibody (anti-NMDAr) encephalitis, although still a rare condition, is well known to neurologists as it is the leading cause of non-infectious acute encephalitis in young women. However, this is less well known to gynecologists, who may have a decisive role in etiological management. Indeed, in 30-60% of cases in women of childbearing age, it is associated with the presence of an ovarian teratoma, whose removal is crucial in the resolution of symptomatology. OBJECTIVES: Primary objective of our work was to present a review in a very schematic and practical way for gynecologists, about the data on anti-NMDAr encephalitis in terms of epidemiology, clinical symptomatology, treatment and prognosis. The second objective was to propose a decision tree for gynecologists to guide them, in collaboration with neurologists and anesthesiologists, after the diagnosis of NMDAr encephalitis associated with an ovarian mass. METHOD: We conducted an exhaustive review of existing data using PubMed and The Cochrane Library. Then, we illustrated this topic by presenting two typical cases from our experience. RESULTS: Anti-NMDA antibody encephalitis association with an ovarian teratoma is common, especially in women of reproductive age. Complementary examinations in search of an ovarian teratoma must therefore be systematic to envisage a possible surgical excision that may improve patient prognosis. CONCLUSION: Anti-NMDA antibody encephalitis should not be ignored by gynecologists whose role in management is central.

[Probable rheumatoid meningitis complicated by cryptococcal meningitis: A case report].

We report a case of rheumatoid meningitis complicated with cryptococcal meningitis in a 59-year-old female with rheumatoid arthritis. Migraine symptoms were followed by abnormal behavior, and the patient was admitted with fever and headache. On admission, her cerebrospinal fluid (CSF) contained 115 cells/µl, a protein content of 95 mg/dl, and a sugar level of 47 mg/dl; Her serum anti-cyclic citrullinated peptide (CCP) antibody value was high (174 U/ml), and a brain MRI showed enhanced gadolinium lesions in the cerebral/cerebellar pia mater and subarachnoid space, etc. Probable rheumatoid meningitis was clinically diagnosed, and a prednisolone (PSL) pulse was started. Several days later, a CSF culture test was positive for Cryptococcus neoformans, and the antigen titer was 128-fold. Liposomal-amphotericin B (L-AMB) was started for cryptococcal meningitis, combined with three PSL pulses for rheumatoid meningitis. After about 4 weeks, the number of CSF cells and anti-CCP antibodies decreased rapidly. At 2 months after the onset, the meningitis recurred. The MRI contrast lesions reappeared, and the CSF cells increased to 24/µl. Serum and CSF anti-CCP antibodies increased at the time of recurrence, but the cryptococcal antigen titer decreased. Thus, we concluded that the rheumatoid meningitis mainly involved the pathogenesis of both types of meningitis. The number of PSL pulses was limited to four. Post-perioral therapy was avoided. Methotrexate was continued for the rheumatoid meningitis, fluconazole was continued for the cryptococcal meningitis, and neither type of meningitis has recurred.

Encefalitis límbica asociada a anti-Caspr2: contribución del análisis visual ayudado de las imágenes PET con 18F-FDG mediante comparación con una base de datos de normalidad / Caspr2 antibody-associated limbic encephalitis: contribution of visual aided analysis of 18F-FDG PET images using normal database comparison

Un inicio temprano de la inmunoterapia es fundamental para mejorar el pronóstico de los pacientes con encefalitis aguda de origen autoinmune (EAI). Se ha propuesto un nuevo abordaje clínico para el diagnóstico temprano basado en aspectos clínicos y pruebas complementarias, pero estas pueden tener una sensibilidad limitada principalmente en las primeras semanas. Mientras que las formas más comunes de EAI (anti-LGI-1 y anti-NMDAR), muestran frecuentemente patrones de PET con 18Flúor-fluordeoxiglucosa (PET-FDG) consistentes, las anti-Caspr2 son menos frecuentes y los patrones de PET-FDG no están establecidos. En nuestra experiencia la PET-FDG en la EAI anti-Caspr2 presenta un hipermetabolismo temporal medial y un déficit difuso cortical, incluso con pruebas complementarias negativas. No obstante, es necesaria la estandarización del análisis de las imágenes PET mediante métodos basados en vóxeles con comparación con bases de datos de normalidad para definir con claridad las áreas de metabolismo alterado que pueden pasar desapercibidas al análisis visual

Early immunotherapy is of paramount importance for a positive outcome in patients suffering acute encephalitis of autoimmune origin (AIE). A new approach for early diagnosis based on clinical presentation and complementary tests has been proposed, but not all these tests show positive findings in the first weeks. While common forms of AIE (anti-LGI-1 and anti-NMDAR antibodies) exhibit consistent 18Fluor-fluorodeoxiglucose (FDG-PET) patterns in many cases, the anti-Caspr2 form of AIE is infrequent and FDG-PET patterns have not been well characterized. In our experience, FDG-PET in anti-Caspr2 limbic encephalitis shows medial temporal hypermetabolism and diffuse cortical hypometabolism, even in the absence of findings in these tests. However, it is necessary to standardize PET image analysis by means of visual and voxel-based methods compared to normal databases to define the areas of pathological metabolism that may go unnoticed when using visual analysis exclusively

Investigating surrogate cerebrospinal fluid matrix compositions for use in quantitative LC-MS analysis of therapeutic antibodies in the cerebrospinal fluid.

As quantitative analysis of biotherapeutics in cerebrospinal fluid (CSF) with LC-MS becomes increasingly widespread, there is a need for method developments towards higher sensitivity. By using artificial CSF (aCSF) in the development phase, the consumption of costly and sparsely available CSF can be limited. The aCSF compositions tested here were made from various dilutions of bovine serum albumin (BSA) or rat plasma to mimic the total protein concentration found in CSF. Focusing on monoclonal antibodies, the aCSF was spiked with human immunoglobulin (hIgG) and prepared with the bottom-up analysis technique using LC-MS. Assuming that the composition of the aCSF would affect the digest, the response from aCSF matrices was compared with CSF from rat, monkey, and dog in terms of estimated sample concentration and matrix effects. The samples were spiked with hIgG in the range of 10 to 1000 ng/mL and volumes of 10 µL were transferred to sample preparation. The results indicate that BSA dilutions from 300 to 2000 µg/mL and rat plasma dilutions of 0.5-2% provide the most accurate concentration estimates when compared with rat CSF. 1000 µg/mL BSA did not produce significantly different concentration estimates for 500 ng/mL samples when compared with CSF from rat, monkey, and dog, and can therefore be used as aCSF for several different species.

Caspr2 antibody-associated limbic encephalitis: contribution of visual aided analysis of 18F-FDG PET images using normal database comparison. / Encefalitis límbica asociada a anti-Caspr2: contribución del análisis visual ayudado de las imágenes PET con 18F-FDG mediante comparación con una base de datos de normalidad.

Early immunotherapy is of paramount importance for a positive outcome in patients suffering acute encephalitis of autoimmune origin (AIE). A new approach for early diagnosis based on clinical presentation and complementary tests has been proposed, but not all these tests show positive findings in the first weeks. While common forms of AIE (anti-LGI-1 and anti-NMDAR antibodies) exhibit consistent 18Fluor-fluorodeoxiglucose (FDG-PET) patterns in many cases, the anti-Caspr2 form of AIE is infrequent and FDG-PET patterns have not been well characterized. In our experience, FDG-PET in anti-Caspr2 limbic encephalitis shows medial temporal hypermetabolism and diffuse cortical hypometabolism, even in the absence of findings in these tests. However, it is necessary to standardize PET image analysis by means of visual and voxel-based methods compared to normal databases to define the areas of pathological metabolism that may go unnoticed when using visual analysis exclusively.

Disseminated cysticercosis in China with complex and variable clinical manifestations: a case series.

BACKGROUND: Cysticercosis is an emerging and neglected tropical disease (NTD) that poses a serious public health concern worldwide. Disseminated cysticercosis (DCC) is an uncommon manifestation of cysticercosis, also found in China. CASE PRESENTATION: We report three cases of DCC in patients living in China, with different clinical and radiological presentations. All three patients had DCC with active ocular cysticercosis, including one patient with widespread DCC caused by direct ingestion of Taenia solium eggs. The intravitreal cysticercus cyst in this patient was completely extracted entirely by 23-gauge pars plana vitrectomy, and the cyst was oval in shape on the flat mount preparation. CONCLUSION: The clinical presentation of DCC is highly sophisticated. The diagnosis depended on the typical radiological presentations, biopsy and flat mount preparations of the cyst.

Aquaporin-4 antibody positive short transverse myelitis associated with breast cancer.

Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory demyelinating disease of the central nervous system (CNS). A typical finding on spinal magnetic resonance imaging (MRI) of NMOSD is longitudinally extensive transverse myelitis (LETM). However, patients with NMOSD presenting with short-segment transverse myelitis (STM) during myelitis attacks associated with breast cancer are uncommon. We report a case of a 35-year-old woman with STM and left eye optic neuritis. The patient was positive for serum aquaporin-4 antibodies (AQP4-IgG), and a biopsy of the left breast showed invasive ductal carcinoma. The patient was diagnosed with NMOSD and breast malignancy. This is the first report of a patient with NMOSD whose spinal MRI showed STM and serum test showed that the patient's AQP4-IgG was positive and complicated by breast cancer. This case improves our understanding of the association between NMOSD and cancer and raises the question of whether it was a coincidental occurrence. It is important to search for extensive malignancies in patients presenting with atypical MRI or no reaction to traditional therapies.

Analysis of Relation Between Electroclinical Features and Cerebrospinal Fluid Antibody Titers in Patients With anti-NMDAR Encephalitis.

PURPOSE: This study aimed to determine the relation between electroclinical features and cerebrospinal fluid (CSF) antibody titers in patients with anti- N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis. METHOD: Clinical symptoms and electroencephalography (EEG) at different stages were analyzed in 51 hospitalized patients with anti-NMDAR encephalitis. RESULTS: Behavioral changes were the initial symptoms in 90.9% (20/22) of female patients with high (1:10 or 1:32) CSF antibody titers. A greater number of clinical symptoms were observed in the patients with high CSF antibody titers than in those with low (1:1 or 1:3.2) CSF antibody titers (mean 3.11 ± 1.06 vs 1.62 ± 0.65, P = .000). The number of clinical symptoms was greater in the female patients than in the male patients (mean 3.52 ± 0.98 vs 2.69 ± 1.09, P = .000). At the peak stage, worse background activity (BA) in EEG recordings was observed in patients with high CSF antibody titers than in those with low CSF antibody titers (Mann-Whitney U test, P = .001). The peak-stage BA in EEG was worse in female patients than in male patients (Mann-Whitney U test, P = .000). Modified Rankin scale scores were higher in patients with high CSF antibody titers than in those with low CSF antibody titers (mean 2.62 ± 1.42 vs 0.75 ± 0.97, P = .000). Brush patterns and constant chewing were observed primarily in female patients with high CSF antibody titers. Epileptic discharges were located predominately in the frontal regions and were noted to vary. CONCLUSION: The electroclinical features of patients with anti-NMDAR encephalitis were associated with gender and CSF antibody titers.

Admission diagnoses of patients later diagnosed with autoimmune encephalitis.

BACKGROUND: Since the detection of autoantibodies against neuronal surface antigens, autoimmune encephalitis (AE) has been more frequently diagnosed, especially in patients with symptoms typical of limbic encephalitis, such as seizures, short-term memory deficits, or psychosis. However, the clinical spectrum of AE may be much wider, making correct clinical diagnosis difficult. METHODS: We retrospectively analysed symptoms and admission diagnoses at first clinical presentation in 50 AE patients. We included patients with a clinical diagnosis of AE for whom a FDG-PET imaging was available. Final diagnoses were re-evaluated by a blinded investigator according to the most recent consensus suggestions published in 2016 for AE diagnostic criteria. We additionally describe two patients with Morvan syndrome who showed CASPR2 antibodies. RESULTS: In 40 patients (80.0%), the clinical presentation at first admission was typical for AE. Ten patients (20.0%) initially suffered from atypical symptoms; among these patients, isolated headache and cerebellar dysfunction were most frequent (three patients each). However, an initial diagnosis of suspected encephalitis was only reached in 16 patients (32.0%), nine (18.0) of which were suspected to have infectious encephalitis, and seven (14.0%) patients were suspected to have AE. In 34 patients (68.0%), a diagnosis other than encephalitis was considered, (e.g., epilepsy, psychiatric diseases, transient ischemic attack, dementia, meningitis, and cerebellitis). CONCLUSIONS: These data show the broad spectrum of initial symptoms of AE; the correct initial diagnosis of AE is often missed or delayed. Hence, clinicians in neurological and psychiatric hospitals should consider AE in the differential diagnosis of cases with atypical clinical presentations.

Anti-N-methyl-D-aspartate receptor encephalitis: A case report.

RATIONALE: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations. The N-methyl-D-aspartate receptor is located in the forebrain and hippocampus and plays a role in learning and memory. PATIENT CONCERNS: A 29-year-old female patient with anti-NMDAR encephalitis, was reported and we also reviewed the literature and summarised the characteristics of the cases. DIAGNOSES: In the present study, we reported 1 patient with anti-NMDAR encephalitis diagnosed by the detection of anti-NMDAR antibodies in serum and cerebrospinal fluid (CSF). INTERVENTIONS: The patient received glucocorticoids and anti-epilepsy treatment as well as human immunoglobulin treatment. OUTCOMES: After treatment, the patient gradually regained consciousness and was discharged after 3 months of rehabilitation. At the follow-up 2 months later, the patient had the sequelae of memory impairment and limb movement disorders. LESSONS: An accurate early diagnosis and active treatment are crucial to the improvement in the prognosis of patients with anti-NMDAR receptor encephalitis.

Distal limb weakness phenotype of Guillain-Barré syndrome.

OBJECTIVE: Several regional variants of Guillain-Barré syndrome (GBS) have been proposed in western countries, but other variants remain unclear, especially among mildly disabled cases. The aim of this study was to identify unvalidated GBS phenotypes among Japanese patients with mild GBS. METHODS: Retrospective study of a cohort of patients at a University Hospital in Japan. RESULTS: Among 107 GBS patients, 25 (23%) were classified as having mild GBS (GBS disability scale ≤ 2 at nadir). A review of mild cases identified 8 patients (7.5% of all GBS and 32% of mild GBS) with an unusual phenotype, namely a distal limb weakness form of GBS (DL-GBS), which showed limited distribution of limb weakness within hands and feet with preserved strength in proximal limb muscles. The patients with DL-GBS were characterized by mild-to-moderate weakness in distal parts of limbs especially fingers, lacking or mild sensory disturbance at distal limbs, sometimes hyperreflexia at legs, and having prior Campylobacter jejuni enteritis. Among the patients with GBS after C. jejuni enteritis, DL-GBS patients were characterized by frequent detection of anti-GM1 antibodies without anti-GD1a antibodies, whereas the others were often positive for the two antibodies. CONCLUSIONS: DL-GBS is a distinct regional phenotype of GBS, which should be differentiated from cervical myelopathy. It can be generally categorized as a mild type of GBS after C. jejuni enteritis, which has characteristic pattern of anti-ganglioside autoantibodies.