Aquaporin-4 autoimmunity masquerading as a brainstem tumor

Lim, Byung Chan; Chae, Jong Hee; Kim, Seung Ki; Park, Shin Young; Wang, Kyu Chang; Lee, Ji Yeoun

doi:10.3171/2014.6.peds13674

Cited by 5 publications

(4 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In view of MRI, cord spinal T2 lesions non-suggestive of MS, and tests for anti-aquaporin 4(AQP4) antibodies in serum and CSF were weakly positive, we diagnosed her neuromyelitis optica spectrum disorder(NMOSD). Although brainstem syndromes and short myelitis lesions [22] were reported in NMOSD [23, 24], we looked for other possible disorders involving auto-immune encephalitis and found anti-NMDAR-Ab in CSF and serum before steroid was applied.…”

Section: Discussionmentioning

confidence: 99%

Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis

Qin

Huang

et al. 2017

BMC Neurol

View full text Add to dashboard Cite

BackgroundAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively.Case presentationA 33-year-old man presented with dysarthria, movement disorder and occasional seizures. He had 6 relapses in 28 years. When suffered from upper respiratory tract syndrome, he developed behavioral and consciousness impairment. Cranial MRI was normal. Viral PCR studies and oncologic work-up were negative. Anti-NMDAR antibody was detected in CSF and serum.A 21-year-old female manifested dizziness and diplopia ten months and six months before, respectively. Both responded to steroid therapy and improved completely. This time she presented with progressive left limb and facial anesthesia, walking and holding unsteadily. Spinal cord MRI follow-up showed abnormality of medulla oblongata and cervical cord(C1). Anti-AQP4 and anti-NMDAR were positive in CSF. Steroid-pulse therapy ameliorated her symptoms.A 37-year-old male experienced worsening vision. He was confirmed neurosyphilis since the CSF tests for syphilis were positive. Protein was elevated and the oligoclonal IgG bands(OB) and anti-NMDAR was positive in CSF. Anti-aquaporin 4(AQP4) antibodies and NMO-IgG were negative. Cranial MRI showed high FLAIR signal on frontal lobe and low T2 signal adjacent to the right cornu posterious ventriculi lateralis. Treatment for neurosyphlis was commenced with gradual improvement.A 39-year-old male, developed serious behavioral and psychiatric symptoms. Examination showed abnormal pupils and unsteady gait. He was confirmed neurosyphilis according to the CSF tests for syphilis. Anti-NMDAR was positive in CSF and serum. Cranial MRI showed lateral ventricles and the third ventricle enlargement and signal abnormality involving bilateral temporal lobe, corona radiate and centrum semiovale. PenicillinG, pulsed methylprednisolone and intravenous immunoglobulin was administered. He was stable.ConclusionAnti-NMDAR encephalitis can present in atypical types. When relapsing, it may present with partial aspects or with isolated symptoms of the full-blown syndrome. Anti-NMDAR encephalitis may be related to neuromyelitis optica spectrum disorder or neurosyphilis.

show abstract

Section: Discussionmentioning

confidence: 99%

Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis

Qin

Huang

et al. 2017

BMC Neurol

View full text Add to dashboard Cite

show abstract

“…At present, some studies suggest AQP4 may be a marker for the progression of malignant glioma [ 21 ], while others argue that AQP4 has no impact on the overall survival of IDH-wildtype GBMs [ 22 ]. As for immune-related aspects, there is little research regarding AQP4 and glioma’s immune system within the last ten years except for two case reports [ 23 , 24 ]. Its role in the glioma immune microenvironment is yet to be revealed.…”

Section: Introductionmentioning

confidence: 99%

Single-cell RNA sequencing reveals changes in glioma-associated macrophage polarization and cellular states of malignant gliomas with high AQP4 expression

et al. 2023

View full text Add to dashboard Cite

Glioma is the most common primary central nervous system tumor in adults. Aquaporin-4, as a water channel protein encoded by AQP4 in the brain, is reported to alter its aggregation status to affect plasma membrane dynamics and provide the potential for metastasis of tumor cells and components of the tumor microenvironment. We performed single-cell RNA transcriptome sequencing of 53059 cells from 13 malignant glioma samples and spotted that the expression of AQP4 differed between samples. The same result was observed in the TCGA glioma database, showing poor overall survival and poor response to chemotherapy in AQP4 overexpressed populations. Concomitant with the overexpression of AQP4, genes related to the immune system were also over-expressed, such as CD74, HES1, CALD1, and HEBP2, indicating AQP4 may relate to immune factors of tumor progression. We also found that tumor-associated macrophages tended to polarize toward M2 macrophages in the high AQP4 group. In glioblastoma samples, we examined cell status differences and identified that cell status differs according to AQP4 expression levels. Briefly, our study revealed substantial heterogeneity within malignant gliomas with different AQP4 expression levels, indicating the intricate connection between tumor cells and the tumor immune environment.

show abstract

“…37,38 The spectrum extended to enclose atypical presentations; tumor like lesions, progressive encephalopathy and hormonal disturbances like amenorrhea. 39,40 Thus, the diagnosis may be missed or delayed in patients presenting with atypical presentations or non-CNS manifestations at onset.…”

Section: Misdiagnosis Is Commonmentioning

confidence: 99%

Neuromyelitis optica spectrum disorders in the Arabian Gulf: challenges and growing experience

Alroughani

Qadi

Inshasi³

et al. 2020

Multiple Sclerosis Journal - Experimental, Translational and Cl

View full text Add to dashboard Cite

Neuromyelitis optica spectrum disorders (NMOSD) have been studied in different ethnic groups, including Asians, African-Americans, and Caucasians. Demonstrating the clinical features among diverse communities is important to understand the variable disease phenotypes, which will lead to further classification and better clinical management. Testing for antibody against aquaporin-4 (AQP4), the most common target antigen in NMOSD, is not available in many countries and tests use different methods, with variable sensitivity. With negative antibody results, the diagnosis of NMOSD becomes challenging and may affect the outcomes of patients with NMOSD. There are no adequate studies that assess NMOSD cohorts in the Arabian Gulf region, despite the increasing number of diagnosed cases. It is worth assessing NMOSD cohorts in the Arabian Gulf population to study the natural history of disease and to establish an epidemiological background for future perspectives. Various challenges to implement such a mission are outlined, including disease rarity, overlapping presenting symptoms and signs, which posed the issue of mimickers in the differential diagnosis, lack of specialized clinics, absence of highly sensitive testing methods for diagnosis, and the indefinite agreement on the negative AQP4 NMOSD criteria. Collaborative efforts started to take a place among many experts in the region to establish a registry of NMOSD patients for better perception of the disease pattern.

show abstract

Aquaporin-4 autoimmunity masquerading as a brainstem tumor

Cited by 5 publications

References 22 publications

Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis

Anti-N-methyl-D-aspartate receptor(NMDAR) antibody encephalitis presents in atypical types and coexists with neuromyelitis optica spectrum disorder or neurosyphilis

Single-cell RNA sequencing reveals changes in glioma-associated macrophage polarization and cellular states of malignant gliomas with high AQP4 expression

Neuromyelitis optica spectrum disorders in the Arabian Gulf: challenges and growing experience

Contact Info

Product

Resources

About