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Deep Brain Stimulation Leads to Long-term Improvement of Neuropathic Tremor due to Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report. 脑深部刺激可长期改善慢性炎症性脱髓鞘多发性神经病引起的神经性震颤:病例报告。
NMC case report journal Pub Date : 2024-04-24 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0241
Masaki Ujihara, Masahito Kobayashi, Sachiko Hirata, Kazuhiko Takabatake, Kenji Wakiya, Takamitsu Fujimaki
{"title":"Deep Brain Stimulation Leads to Long-term Improvement of Neuropathic Tremor due to Chronic Inflammatory Demyelinating Polyneuropathy: A Case Report.","authors":"Masaki Ujihara, Masahito Kobayashi, Sachiko Hirata, Kazuhiko Takabatake, Kenji Wakiya, Takamitsu Fujimaki","doi":"10.2176/jns-nmc.2023-0241","DOIUrl":"https://doi.org/10.2176/jns-nmc.2023-0241","url":null,"abstract":"<p><p>Chronic inflammatory demyelinating polyneuropathy (CIDP) is a peripheral neuropathy caused by immune-mediated demyelination, causing tremors in 3.9%-58% of affected patients. This neuropathic tremor may persist after treatment and is known to be refractory to conventional medication. We present two cases of neuropathic tremor due to CIDP in which deep brain stimulation (DBS) over a long-term period led to marked improvement. Case 1: A 66-year-old woman presented with severe 2-3-Hz resting, postural, and kinetic tremors of both hands. The tremor was refractory to medication but improved well after bilateral VIM-DBS. However, 2 months after the procedure, the tremor worsened and was accompanied by sensory disturbance in the extremities. A diagnosis of CIDP was made, and treatment with corticosteroids and intravenous immunoglobulin achieved remission 6 months later. Although there was residual tremor after CIDP remission, it has been well controlled by DBS for the last 10 years. Case 2: A 56-year-old man presented with a 6-year history of CIDP after developing sensory dullness and tremors in the extremities. The CIDP had gone into remission 1 year previously and the sensory deficits had improved, but the tremors had gradually worsened: severe 8-12-Hz postural, kinetic, and resting tremors were present in both upper extremities. Right VIM-DBS was performed and the tremors on the left side showed marked improvement. Over the next 8 years, the tremors were well controlled and there were no relapses of CIDP. DBS may achieve long-term improvement of neuropathic tremor caused by CIDP if the CIDP is in remission.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"109-112"},"PeriodicalIF":0.0,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140961446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Subarachnoid Hemorrhage Confirmed by Magnetic Resonance Imaging in a Patient with Brain Death owing to Hypoxic Encephalopathy Following Suicide by Hanging. 一名上吊自杀后因缺氧性脑病导致脑死亡的患者经磁共振成像确认为蛛网膜下腔出血。
NMC case report journal Pub Date : 2024-03-19 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0275
Sotaro Oshida, Tomoki Yokosawa, Shizuka Araya, Shinpei Sato, Taro Suzuki, Yosuke Akamatsu, Kuniaki Ogasawara
{"title":"Subarachnoid Hemorrhage Confirmed by Magnetic Resonance Imaging in a Patient with Brain Death owing to Hypoxic Encephalopathy Following Suicide by Hanging.","authors":"Sotaro Oshida, Tomoki Yokosawa, Shizuka Araya, Shinpei Sato, Taro Suzuki, Yosuke Akamatsu, Kuniaki Ogasawara","doi":"10.2176/jns-nmc.2023-0275","DOIUrl":"https://doi.org/10.2176/jns-nmc.2023-0275","url":null,"abstract":"<p><p>Although true subarachnoid hemorrhage (SAH) is an atypical complication owing to suicide by hanging, pseudo-SAH can often develop because of hypoxic encephalopathy. Therefore, differentiating pseudo-SAH from true SAH using brain computed tomography (CT) is often challenging. In Japan, an individual's cause of brain death must be determined to be eligible for organ donation, regardless of whether true SAH is involved or not. Herein, we report a case of SAH confirmed by magnetic resonance imaging (MRI) in a patient with brain death owing to hypoxic encephalopathy following suicide by hanging. A 48-year-old man attempted suicide by hanging. Upon arrival at the hospital, he developed pulseless electrical activity with apnea. Although spontaneous circulation returned within a few minutes of his arrival, spontaneous breathing did not recover. The patient was in deep comatose state without response to pain stimulation, brainstem reflexes, or electrical activities on an electroencephalogram. Consequently, the patient met diagnostic criteria for clinical brain death based on the Japanese organ transplantation law. Brain CT revealed global hypoxic injury and high density in the basal cisterns and subarachnoid space. Brain MR T2*-weighted imaging revealed low intensity at the left Sylvian fissure underlying the hematoma. These findings indicated brain death owing to hypoxic encephalopathy following hanging, and incidental true SAH was confirmed by MRI. Donor surgery and organ transplantation were performed. Spontaneous SAH can often develop secondary to hanging, and brain MRI can effectively determine whether the cause of brain death involves true SAH.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"61-67"},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10999757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adult-onset Sacral Meningocele Causing a Specific Headache Triggered by Compression or Adoption of a Sitting or Supine Posture. 成人骶骨脑膜囊肿引起的特殊头痛,由压迫或采取坐姿或仰卧姿势引发。
NMC case report journal Pub Date : 2024-03-19 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0272
Masaya Nishikata, Masahito Kobayashi, Takamitsu Fujimaki
{"title":"Adult-onset Sacral Meningocele Causing a Specific Headache Triggered by Compression or Adoption of a Sitting or Supine Posture.","authors":"Masaya Nishikata, Masahito Kobayashi, Takamitsu Fujimaki","doi":"10.2176/jns-nmc.2023-0272","DOIUrl":"https://doi.org/10.2176/jns-nmc.2023-0272","url":null,"abstract":"<p><p>We report a rare case of adult-onset sacral meningocele where compression triggered a specific headache. A 46-year-old woman presented with a headache, which worsened when she was in a sitting or supine position. A subcutaneous mass was observed on her left buttock, the compression of which also induced headache. No neurological deficits were evident. Lumbar and sacral magnetic resonance imaging demonstrated a meningocele in the left dorsal buttock, connecting to the sacral cerebrospinal fluid (CSF) space, and spinal computed tomography revealed sacral dysplasia. Initial meningocele resection improved the patient's headache, but the cyst recurred 2 years later. Following repeated surgery to reinforce the meningocele orifice, the headache was relieved and has been absent for more than 6 years. The headache was due to intracranial pressure fluctuations due to CSF influx into and drainage from the meningocele. Meningocele development in adulthood can be owing to a spinal bone defect and pressure load on the spinal dura. Surgical resection can improve symptoms resulting from meningocele, and reinforcement of the orifice using an artificial surgical membrane effectively prevents recurrence.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"75-78"},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10999460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140863080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histopathological Examination of a Symptomatic Carotid Web: A Case Report. 无症状颈动脉网的组织病理学检查:病例报告。
NMC case report journal Pub Date : 2024-03-19 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0181
Yukika Arai, Junshi Cho, Asuka Fujino, Naoki Taira, Junko Kunieda, Morio Koike
{"title":"Histopathological Examination of a Symptomatic Carotid Web: A Case Report.","authors":"Yukika Arai, Junshi Cho, Asuka Fujino, Naoki Taira, Junko Kunieda, Morio Koike","doi":"10.2176/jns-nmc.2023-0181","DOIUrl":"https://doi.org/10.2176/jns-nmc.2023-0181","url":null,"abstract":"<p><p>Carotid webs cause ischemic stroke in young people and are associated with a high rate of stroke recurrence. Histopathological examination is crucial for clarifying the pathogenesis and mechanisms underlying the occurrence of carotid webs, although the mechanisms generally remain unclear. Here, we report a case of a symptomatic carotid web in a woman in her 50s who had a medical history of two ischemic strokes. She was diagnosed with a right carotid web and underwent carotid endarterectomy 18 days after the second stroke. Histopathological examination clearly revealed several phases of intimal hyperplasia. Furthermore, a thrombus attached to the carotid web showed invasion by fibroblasts and capillaries, and organization had begun. We presume that after the appearance of the carotid web, the thrombus formed by stagnant flow and became organized, causing the carotid web to grow and change in shape.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"69-74"},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10999461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Ruptured Aneurysm of the Transdural Anastomotic Artery Occurring at the Temporal Base in Moyamoya Disease: Case Report and Literature Review. 莫亚莫亚氏病颞底发生的硬膜外吻合动脉瘤破裂:病例报告和文献综述。
NMC case report journal Pub Date : 2024-03-19 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0263
Yusuke Otsu, Jin Kikuchi, Yoichiro Nakahara, Hidenobu Yoshitake, Sosho Kajiwara, Kiyohiko Sakata, Motohiro Morioka
{"title":"A Ruptured Aneurysm of the Transdural Anastomotic Artery Occurring at the Temporal Base in Moyamoya Disease: Case Report and Literature Review.","authors":"Yusuke Otsu, Jin Kikuchi, Yoichiro Nakahara, Hidenobu Yoshitake, Sosho Kajiwara, Kiyohiko Sakata, Motohiro Morioka","doi":"10.2176/jns-nmc.2023-0263","DOIUrl":"https://doi.org/10.2176/jns-nmc.2023-0263","url":null,"abstract":"<p><p>A 24-year-old woman with hemorrhagic onset moyamoya disease received bilateral indirect bypass surgery 11 years ago. She presented with a life-threatening atraumatic acute right subdural hematoma with temporal lobe intracerebral hemorrhage due to a transdural anastomosis (TDA) aneurysm rupture. We reviewed six cases of rare TDA aneurysms, all of which occurred around the temporal base. TDA aneurysms may occur near the main trunk of the middle meningeal artery (MMA) where hemodynamic stress is high. Therefore, we must pay attention to skull base aneurysms that form near the MMA; otherwise, the prognosis would be poor if such an aneurysm ruptured.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"79-84"},"PeriodicalIF":0.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10999459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Convexity Dural Arteriovenous Fistula without Cortical Venous Reflux Presenting with Pure Acute Subdural Hematoma. 凸面硬脑膜动静脉瘘,无皮质静脉回流,伴有单纯急性硬脑膜下血肿。
NMC case report journal Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0220
Junya Tatezuki, Sujong Pak, Fukutaro Ohgaki, Yasunori Takemoto, Yasuhiko Mochimatsu
{"title":"Convexity Dural Arteriovenous Fistula without Cortical Venous Reflux Presenting with Pure Acute Subdural Hematoma.","authors":"Junya Tatezuki, Sujong Pak, Fukutaro Ohgaki, Yasunori Takemoto, Yasuhiko Mochimatsu","doi":"10.2176/jns-nmc.2023-0220","DOIUrl":"10.2176/jns-nmc.2023-0220","url":null,"abstract":"<p><p>Hemorrhagic changes in a dural arteriovenous fistula are typically associated with cortical venous reflux and occur as intracerebral or subarachnoid hemorrhages. A convexity dural arteriovenous fistula (DAVF) usually flows directly into the cortical veins and exhibits cortical venous reflux. Herein, we report a rare case of a convexity DAVF without cortical venous reflux presenting with a pure acute subdural hematoma. A 19-year-old man complaining of headache without any history of head injury was diagnosed with a left acute subdural hematoma on magnetic resonance imaging (MRI) and referred to our hospital. The patient was conscious and exhibited no neurological signs. The MRI did not reveal any possible abnormalities leading to hemorrhage. Cerebral angiography revealed a dural arteriovenous fistula in the left parietal cranium with a feeder from the middle meningeal artery and a drainer into the main transverse sinus via a diploic vein. Part of the shunt blood flowed into the superior sagittal sinus from the meningeal vein; however, there was no reflux into the cortical vein or stasis of the cerebral vein, suggesting venous hypertension. A convexity DAVF was diagnosed as the source of bleeding, and transarterial embolization was performed. The patient recovered without any neurological deficits. In the absence of trauma, an acute subdural hematoma requires an appropriate evaluation of the vascular lesions and a treatment plan.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"37-41"},"PeriodicalIF":0.0,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outcome of Visual Function after Removal of Tuberculum Sellae Meningioma Presenting with Scotoma at the Lower Visual Field Center. 下视野中心出现视网膜瘤的椎管内脑膜瘤切除术后的视功能恢复情况
NMC case report journal Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0234
Yosuke Seiya, Keisuke Maruyama, Hiroya Imai, Yoshiaki Shiokawa, Hirofumi Nakatomi
{"title":"Outcome of Visual Function after Removal of Tuberculum Sellae Meningioma Presenting with Scotoma at the Lower Visual Field Center.","authors":"Yosuke Seiya, Keisuke Maruyama, Hiroya Imai, Yoshiaki Shiokawa, Hirofumi Nakatomi","doi":"10.2176/jns-nmc.2023-0234","DOIUrl":"10.2176/jns-nmc.2023-0234","url":null,"abstract":"<p><p>Tuberculum sellae meningiomas commonly present as bitemporal hemianopia and loss of visual acuity due to optic nerve compression. Two female patients (48 and 58 years old) presented with a small scotoma at the lower visual field center due to tuberculum sellae meningioma (25 and 10 mm, respectively). Despite the fact that their visual field defect was not very large, daily activities, including walking or reading were hindered. By the total removal of the tumors in both patients, the scotoma was cured and daily activities recovered. When patients exhibit visual deficits, especially in the lower center fields, surgical removal should be considered even if the tumors are small and visual deficits are limited because improvement of both vision and daily activities can be achieved.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"55-59"},"PeriodicalIF":0.0,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rapidly Progressing Intramedullary Spinal Cord Abscess: A Case Report. 快速进展的髓内脊髓脓肿:病例报告
NMC case report journal Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0144
Takuro Ehara, Tomonari Suzuki, Reina Mizuno, Mitsuaki Shirahata, Kazuhiko Mishima, Taku Homma
{"title":"Rapidly Progressing Intramedullary Spinal Cord Abscess: A Case Report.","authors":"Takuro Ehara, Tomonari Suzuki, Reina Mizuno, Mitsuaki Shirahata, Kazuhiko Mishima, Taku Homma","doi":"10.2176/jns-nmc.2023-0144","DOIUrl":"10.2176/jns-nmc.2023-0144","url":null,"abstract":"<p><p>Intramedullary spinal cord abscess is a rare and severe infectious disease characterized by devastating neurological deficits. We report a case of cervical intramedullary spinal cord abscess in a 74-year-old diabetic male with a 3-day history of neck pain and weakness in the right lower extremity. Magnetic resonance imaging revealed a ring-shaped contrast lesion in C3-C6 of the cervical spinal cord with extensive edema. Further, 1 day after admission, he became comatose (Glasgow Coma Scale E1VtM1), and a computed tomography head scan revealed hydrocephalus. Despite emergency ventricular drainage, the patient's level of consciousness remained unchanged. Magnetic resonance imaging performed 1 day after surgery revealed bilateral intracranial extension of the abscess into the thalamus and caudate nucleus. The patient died 19 days after admission. Our report is the first case of extensive brain abscess development over a short period. Based on our experience, prompt administration of antibiotics and emergency abscess drainage of the cervical cord (and ventricular drainage, if necessary) are recommended in cases of neurological deterioration in patients with cervical intramedullary spinal cord abscess.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"43-47"},"PeriodicalIF":0.0,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retained Intracerebral Depth Electrode after Stereotactic Electroencephalography Monitoring: A Case Report. 立体定向脑电图监测后残留的脑内深度电极:病例报告。
NMC case report journal Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2023-0242
Kota Kagawa, Koji Iida, Akira Hashizume, Go Seyama, Akitake Okamura, Rofat Askoro, Nobutaka Horie
{"title":"Retained Intracerebral Depth Electrode after Stereotactic Electroencephalography Monitoring: A Case Report.","authors":"Kota Kagawa, Koji Iida, Akira Hashizume, Go Seyama, Akitake Okamura, Rofat Askoro, Nobutaka Horie","doi":"10.2176/jns-nmc.2023-0242","DOIUrl":"10.2176/jns-nmc.2023-0242","url":null,"abstract":"<p><p>Stereotactic electroencephalography (SEEG) is an increasingly popular surgical modality for localizing the epileptogenic zone. Robot-guided stereotactic electrode placement has been covered in Japan by National Health Insurance since 2020. However, several surgical devices, such as the anchor bolt (a thin, hollow, metal shaft that serves as a guide screw or fixing for each electrode), have not been approved. A 14-year-old female who underwent SEEG for intractable epilepsy and required additional surgery to remove a retained depth electrode from the skull after the SEEG monitoring was finished. She had uncontrolled focal seizures consisting of nausea and laryngeal constriction at the onset. After a comprehensive presurgical evaluation, robot-guided stereotactic electrode implantation was performed to evaluate her seizures by SEEG. Nine depth electrodes were implanted through the twist drill hole. The electrodes were sutured to her skin for fixation without anchor bolts. When we attempted to remove the electrodes after 8 days of SEEG monitoring, one of the electrodes was retained. The retained electrode was removed through an additional skin incision and a small craniectomy under general anesthesia. We confirmed narrowing of the twist drill hole pathway in the internal table of the skull due to osteogenesis, which locked the electrode. This complication might be avoided if an anchor bolt had been used. This case report prompts the approval of the anchor bolts to avoid difficulty in electrode removal. Moreover, approval of a depth electrode with a thinner diameter and more consistent hardness is needed.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"49-53"},"PeriodicalIF":0.0,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10918211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two Cases of Atypical Teratoid/Rhabdoid Tumor in the Spinal Cord: Loss of SMARCB1 in a Child and Loss of SMARCA4 in an Adult. 两例脊髓非典型畸胎瘤/横纹肌瘤:儿童 SMARCB1 缺失和成人 SMARCA4 缺失。
NMC case report journal Pub Date : 2024-01-31 eCollection Date: 2024-01-01 DOI: 10.2176/jns-nmc.2022-0096
Tamaki Morisako, Daisuke Umebayashi, Toshiki Nagai, Takumi Yamanaka, Takanori Hirose, Yukiko Shishido-Hara, Eiich Konishi, Naoya Hashimoto
{"title":"Two Cases of Atypical Teratoid/Rhabdoid Tumor in the Spinal Cord: Loss of SMARCB1 in a Child and Loss of SMARCA4 in an Adult.","authors":"Tamaki Morisako, Daisuke Umebayashi, Toshiki Nagai, Takumi Yamanaka, Takanori Hirose, Yukiko Shishido-Hara, Eiich Konishi, Naoya Hashimoto","doi":"10.2176/jns-nmc.2022-0096","DOIUrl":"10.2176/jns-nmc.2022-0096","url":null,"abstract":"<p><p>We compare two cases of primary spinal atypical teratoid/rhabdoid tumor (AT/RT), which rarely occurs in adults marked by <i>SMARCA4</i> inactivation, and <i>SMARCB1</i> inactivation for pediatric cases. AT/RT represents a highly malignant neoplasm comprising poorly differentiated constituents and rhabdoid cells, with SMARCB1(INI1) or infrequently SMARCA4 (BRG1) inactivation. These tumors are predominantly found in children but are rare in adults. While AT/RT can arise anywhere in the central nervous system, spinal cord localization is comparatively scarce. Despite mutation or loss of <i>SMARCB1</i> at the 22q11.2 locus serving as the genetic hallmark of AT/RTs, infrequent cases of SMARCA4 inactivation with intact SMARCB1 protein expression are significant. We present each case of primary spinal tumors in a child and an adult, showing loss of the SMARCB1 and SMARCA4 proteins, respectively. Both tumors met the AT/RT diagnostic criteria. The histopathology demonstrated the presence of rhabdoid cells in both cases. Diagnosing primary spinal AT/RT with SMARCB1 protein loss remains a challenge. Nevertheless, the presence of SMARCB1 positivity alone must be noted to be insufficient to exclude the possibility of AT/RT diagnosis. In cases in which the diagnosis of AT/RT is highly suspected clinically, additional testing is warranted, including <i>SMARCA4</i> analysis.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"11 ","pages":"27-32"},"PeriodicalIF":0.0,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10895083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139975355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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