Clinical Neuropathology最新文献_第8页

Uncommon histopathological features of cytomegalovirus encephalitis and measles inclusion body encephalitis on autopsy in two patients with primary immunodeficiency. 两例原发性免疫缺陷患者巨细胞病毒脑炎和麻疹包涵体脑炎尸检的不寻常组织病理学特征。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NP301476

Ankur Jindal, Deepti Suri, Kirti Gupta, Ashwani Kumar, Vignesh Pandiarajan, Rakesh Kumar Pilania, Sandesh Guleria, Amit Rawat, Sameer Vyas, Anmol Bhatia, Surjit Singh, Bishan Dass Radotra

{"title":"Uncommon histopathological features of cytomegalovirus encephalitis and measles inclusion body encephalitis on autopsy in two patients with primary immunodeficiency.","authors":"Ankur Jindal, Deepti Suri, Kirti Gupta, Ashwani Kumar, Vignesh Pandiarajan, Rakesh Kumar Pilania, Sandesh Guleria, Amit Rawat, Sameer Vyas, Anmol Bhatia, Surjit Singh, Bishan Dass Radotra","doi":"10.5414/NP301476","DOIUrl":"https://doi.org/10.5414/NP301476","url":null,"abstract":"Purpose: To describe the neuropathological findings in two patients with primary immunodeficiency who had fatal viral encephalitis.Materials and methods: Severe combined immunodeficiency (SCID) was confirmed in case 1 by genetic testing, while case 2 had features suggestive of combined immunodeficiency; however, whole exome sequencing showed no pathogenic variants. Autopsies were performed in both cases after an informed consent. A detailed sampling of the brain including extracranial organs was conducted. Immunohistochemistry and electron microscopy was also performed to confirm the presence of viruses.Results: Besides evidence of cystic encephalomalacia observed in both cases, the brain in case 1 revealed cytomegalovirus (CMV) ventriculoencephalitis accompanied by an exuberant gemistocytic response in the entire white matter. Nuclei of gemistocytes were loaded with several CMV nuclear inclusions, which was confirmed by immunohistochemistry. Case 2 demonstrated features of measles inclusion body encephalitis with several viral inclusions within neurons and astrocytes. Rare giant cells were also seen. Measles virus was confirmed on immunohistochemistry and electron microscopy. Plausibly, there was paucity of microglial nodules in both cases. Superadded bacterial pneumonia with diffuse alveolar damage was also seen in both cases.Conclusion: These cases add to the spectrum of unusual histological features of viral encephalitis seen in patients with underlying primary immunodeficiency diseases.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"15-25"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10754872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Colloid cyst with hyphal-like structures: A rarity that mimics actinomycosis of athe third ventricle. 具有菌丝样结构的胶体囊肿:罕见的类似第三脑室放线菌病的囊肿。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NP301456

Dirar Aldabek, Martina Deckert, Christian Mawrin, Jan-Peter Warnke

引用次数: 0

Clinical Raman spectroscopy of brain tumors from an interdisciplinary perspective. 从跨学科的角度看脑肿瘤的临床拉曼光谱。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NP301522

Roberta Galli, Tareq A Juratli, Ortrud Uckermann

引用次数: 0

Recurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review. 脊髓复发性高级别星形母细胞瘤伴MN1-BEND2融合并文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NP301497

Dongjin Sun, Jing Liu, Liling Xiao, Hong Guan

{"title":"Recurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review.","authors":"Dongjin Sun, Jing Liu, Liling Xiao, Hong Guan","doi":"10.5414/NP301497","DOIUrl":"https://doi.org/10.5414/NP301497","url":null,"abstract":"Astroblastoma is an uncommon tumor of the central nervous system. It is variable in morphology, but the astroblastic pseudorosettes and vascular hyalinization are the most important features. Most astroblastomas occur in the cerebral hemisphere. We report a recurrent high-grade astroblastoma with MN1-BEND2 fusion in the spinal cord. Two lesions were found in the T5-7 level and T12-L1 level, and they were well defined in images. Rhabdoid and signet-ring-like cells were observed. It may be classified as a high-grade tumor due to cellularity, high mitotic count, and pleomorphism. The tumor cells were diffusely positive for GFAP, Olig-2, and S-100 protein. We found the MN1 arrangement and the loss of chromosome 1p by FISH, and further validated the BEN domain containing 2 genes (BEND2), which is the fusion partner of meningioma 1 gene (MN1), by next-generation sequencing (NGS) and Sanger sequencing. The MN1 mutation is crucial in the diagnosis and prognosis of rare astroblastoma. The spinal cord astroblastoma may have a high recurrence rate because of the residual lesion at the unique location and higher grade; the connection with the gene mutation is unclear. Regular follow-up is necessary. Further study and more cases are needed to establish evidence for diagnosis, prognosis, and treatment of astroblastoma with molecular characteristics.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"42 1","pages":"30-39"},"PeriodicalIF":1.1,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10751587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Neuropathology 1-2023. 临床神经病理学1-2023。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2023-01-01 DOI: 10.5414/NPP42001

Christian Mawrin

引用次数: 0

Argyrophilic grain disease pathology in a patient under 70 years of age: A brief case report and literature review. 70岁以下嗜银性谷粒病病理:一个简单的病例报告和文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301484

Sumit Das

引用次数: 0

H3 K27M-mutant diffuse midline glioma with osseous metastases: A case report and a literature review. H3 k27m突变型弥漫性中线胶质瘤伴骨转移1例报告并文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301475

Sarah Al Sharie, Muna Talafha, Dima Abu Laban, Tala Al Awabdeh, Abdullatif Al-Mousa, Nidal Al-Masri, Maysa Al-Hussaini

{"title":"H3 K27M-mutant diffuse midline glioma with osseous metastases: A case report and a literature review.","authors":"Sarah Al Sharie, Muna Talafha, Dima Abu Laban, Tala Al Awabdeh, Abdullatif Al-Mousa, Nidal Al-Masri, Maysa Al-Hussaini","doi":"10.5414/NP301475","DOIUrl":"https://doi.org/10.5414/NP301475","url":null,"abstract":"Introduction: Diffuse midline glioma (DMG) is a primary tumor of the central nervous system (CNS) with aggressive nature. It arises from midline structures in the brain and spinal cord. Recently, the presence of H3 K27M mutation is described in most cases. Extra-cranial osseous metastasis is rarely encountered.Case presentation: We present an interesting case of DMG with bone metastasis at presentation in a 19-year-old male. In addition, a literature review on similar cases is presented.Discussion: DMG mostly affects children and young adults. It has a broad spectrum of phenotypes, shows diffuse growth pattern, midline location, and is frequently H3 K27M-mutant. Radiotherapy remains the mainstay of treatment that might improve overall survival. Metastasis outside the CNS remains a rare occurrence, especially at presentation, and constitute a diagnostic challenge.Conclusion: Bone is one of the most common sites for metastasis of primary CNS tumors, which would severely impact prognosis. Oncologists, radiologists, and pathologists should keep an index of suspicion when encountering bone metastasis in the presence of a CNS midline tumor, so that timely diagnosis and management can be rendered.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"263-270"},"PeriodicalIF":1.1,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301460

Xu J Chu, Kang Du, Ling C Meng, Zhi Y Xie, Ying Zhu, Wei Zhang, Zhao X Wang, Yun Yuan

{"title":"EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.","authors":"Xu J Chu, Kang Du, Ling C Meng, Zhi Y Xie, Ying Zhu, Wei Zhang, Zhao X Wang, Yun Yuan","doi":"10.5414/NP301460","DOIUrl":"https://doi.org/10.5414/NP301460","url":null,"abstract":"Background and aims: The early growth response 2 gene (EGR2) mutations are associated with a group of hereditary neuropathy, including axonal neuropathy and hypomyelinating neuropathy or Charcot-Marie-Tooth disease (CMT) type 1D. We aim to perform an electrodiagnostic, nerve imaging, and histological study of EGR2-associated neuropathy.Materials and methods: We performed a retrospective analysis of two patients with EGR2-related neurology at our hospital. The neuropathy was confirmed by the nerve conduction study. Nerve imaging and sural biopsies were performed in two patients.Results: Two unrelated boys exhibited early-onset length-dependent neuropathy. Next generation sequencing identified EGR2 gene with previously described E412K mutation in the third zine finger domain in patient 1 and a previously undescribed variant D355N mutation in the first zinc finger domain in patient 2. The magnetic resonance imaging of the lumbosacral plexus showed no abnormalities in patient 1 and thickened lumbosacral plexuses in patient 2. Electrophysiology and nerve biopsies showed a prominent axonal neuropathy, accompanied with demyelinating involvement.Conclusion: Therefore, it seemed that the EGR2 mutations could cause not only the known demyelinating type and axonal type but also mixed-type CMT. Our findings expanded the phenotypic heterogeneities of EGR2-associated neuropathy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"245-252"},"PeriodicalIF":1.1,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Clinical Neuropathology 6-2022. 临床神经病理学6-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NPP41243

Christian Mawrin

引用次数: 0

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-11-01 DOI: 10.5414/NP301480

Chunhui Cao, Haibo Long, Qin Shao

引用次数: 0