Case Reports in Neurological Medicine最新文献

{"title":"Spastic Quadriplegia Resulting From a Pathogenic Variant in the <i>SPAST</i> Gene: A First Report.","authors":"Eirini Kostopoulou, Maria Lagadinou, Ageliki Karatza, Xenophon Sinopidis, Rin Khang, Gabriel Dimitriou","doi":"10.1155/crnm/2632593","DOIUrl":"10.1155/crnm/2632593","url":null,"abstract":"<p><strong>Background: </strong>The <i>SPAST</i> gene encodes spastin, a microtubule-severing protein. Pathogenic variants in this gene are commonly associated with autosomal dominant Spastic paraplegia type 4 (<i>SPG4</i>), a neurodegenerative disorder presenting with progressive lower limb spasticity. Severe phenotypes involving more extensive neurological impairment are rare.</p><p><strong>Case presentation: </strong>We report the first known case of an adolescent with a rare pathogenic <i>SPAST</i> variant (NM_014946.4: c.1507C > T; NP_055761.2: p. [Arg503Trp]) presenting with spastic quadriplegia. Additional features included severe intellectual disability, absent speech, dysphagia, and epilepsy, manifestations infrequently reported in association with <i>SPAST</i> mutations. He was born prematurely at 32 weeks of gestation after a complicated antenatal period due to the development of preeclampsia at 23 weeks and gestational diabetes mellitus at 26 weeks.</p><p><strong>Discussion: </strong>The patient's clinical presentation represents one of the most severe phenotypes described in the literature for <i>SPAST</i>-related disorders. The identification of a genetic cause provided a more satisfactory and specific diagnosis than the previously presumed etiology of perinatal asphyxia. This case broadens the phenotypic spectrum of <i>SPAST</i>-related disease and highlights the role of genetic testing in the diagnostic workup of complex neurological conditions.</p><p><strong>Conclusion: </strong>We report the first case of a pathogenic variant in the <i>SPAST</i> gene and quadriplegia and one of the most severe clinical phenotypes described in the literature in association with variants in this gene. This report underscores the importance of considering <i>SPAST</i> mutations in patients with atypical or severe neurodevelopmental presentations. Genetic diagnosis enables more accurate prognosis, individualized medical care, and appropriate genetic counseling for families.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"2632593"},"PeriodicalIF":0.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13126082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147811326","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}

{"title":"A Case of Voltage-Gated Calcium Channel and TG6 Antibody-Positive Cerebellar Ataxia.","authors":"Alberto Cifelli, Zain Butt, Eva Cifelli, Marios Hadjivassiliou","doi":"10.1155/crnm/5563623","DOIUrl":"10.1155/crnm/5563623","url":null,"abstract":"<p><p>We present the case of a lady in her early 20s who developed over a few weeks progressive appendicular and limb ataxia and dysarthria. She was found to have a high titer of voltage-gated calcium channel antibodies (VGCCAs) and was started on immunosuppressive and immunomodulating therapy with no further worsening of her neurological status. Subsequent testing revealed that she was also TG6 antibody-positive, and a gluten-free diet was added to her management, following which improvement in cerebellar N-acetyl-aspartate (NAA) concentration (an index of neuronal health/integrity) was noted on magnetic resonance spectroscopy (MRS), while her clinical picture remained static.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"5563623"},"PeriodicalIF":0.7,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763132","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}

{"title":"Migrated Sacral Facet Joint Cyst Mimicking a Tarlov Cyst: A Case Report.","authors":"Evangelos A Christodoulou, Konstantinos Kafchitsas","doi":"10.1155/crnm/2679509","DOIUrl":"10.1155/crnm/2679509","url":null,"abstract":"<p><p>We report the case of a 78-year-old male presenting with debilitating left-sided S1 radicular pain, associated with a positive Lasègue sign and numbness in the S1 dermatome. The patient exhibited mild motor deficits, but his pain was severe enough to impair standing and ambulation. Magnetic resonance imaging (MRI) revealed a cystic lesion at the S1 level; however, the exact etiology remained unclear-differential diagnoses included a Tarlov cyst or a facet joint cyst. No other spinal comorbidities were noticed. Initial conservative management, including intravenous analgesics and C-arm-guided S1 nerve root blocks, failed to provide relief. Due to persistent symptoms, surgical exploration was undertaken. Intraoperatively, a facet joint cyst was identified and successfully excised. Postoperative recovery was uneventful, and the patient reported significant pain relief and functional improvement. This case highlights an unusual presentation of a facet joint cyst located at the sacral level without a visible connection to the facet joint, raising diagnostic challenges on imaging.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"2679509"},"PeriodicalIF":0.7,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763059","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}

{"title":"A Spine Friendly \"Backdoor Anterolateral Retroperitoneal Approach\" for the Treatment of Giant Extraforaminal L5-S1 Spinal Schwannoma: A Case Report.","authors":"Kodeeswaran M, Chiraag Hiran S, Jagadish Chandrabose, Srikala Prasad, Priyadarshan K P, Arun Narindar, Lakshmi Narasimhan Ranganathan, Bipin Chaurasia, Ganesh P S","doi":"10.1155/crnm/3243101","DOIUrl":"10.1155/crnm/3243101","url":null,"abstract":"<p><p>Schwannomas, or peripheral nerve sheath tumors, involving the retroperitoneal space are rare, accounting for approximately 3%-5% of all tumors, and most commonly arise from the eighth cranial nerve and spinal nerve roots. Extraforaminal retroperitoneal spinal schwannomas of the lumbosacral region are particularly uncommon and present unique surgical challenges due to their deep location and proximity to major neurovascular structures. Gross total resection remains the treatment of choice; however, conventional posterior and transparaspinal approaches often require bone removal and extensive paraspinal muscle dissection, potentially resulting in postoperative pain, paraspinal muscle morbidity, and spinal instability. We report the case of a 39-year-old female who presented with clinical and radiological features consistent with an extraforaminal retroperitoneal L5-S1 spinal schwannoma. After a thorough preoperative evaluation, the patient underwent complete tumor excision using a backdoor anterolateral retroperitoneal approach, selected to minimize tissue disruption while preserving spinal biomechanics. This approach provided a wider operative corridor with enhanced visualization of the lesion and adjacent neural structures, facilitating safe dissection and gross total resection through the intervertebral foramen without violation of posterior bony elements or excessive muscular stripping. The postoperative course was uneventful, and spinal stability was maintained. This case demonstrates that the backdoor anterolateral retroperitoneal approach is a safe and effective alternative for selected extraforaminal retroperitoneal lumbosacral schwannomas, enabling adequate exposure and complete excision while avoiding the biomechanical compromise commonly associated with traditional posterior approaches.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"3243101"},"PeriodicalIF":0.7,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13088253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147721734","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}

{"title":"Neurosyphilis Presenting With Subtle Clinical Features: A Diagnostic and Therapeutic Challenge.","authors":"Tejash Shahi, Deepti Barakoti, Saurav Ghimire, Manish Subedi, Ram Kumar Sitoula, Prabin Bhattarai, Aakash Koirala","doi":"10.1155/crnm/3745783","DOIUrl":"10.1155/crnm/3745783","url":null,"abstract":"<p><p>We report the case of a 36-year-old male who presented with an acute onset of headache, vomiting, and feverish sensation with a history of prior unsafe sexual activity. VDRL and TPHA were reactive in both the blood and cerebrospinal fluid. A diagnosis of neurosyphilis was thus made, and we successfully treated the patient with ceftriaxone and doxycycline. With the increasing global trend of syphilis, the involvement of the central nervous system, neurosyphilis, is an increasing concern too. Due to the vague nonspecific symptoms and variable timing of presentation, it presents as a diagnostic challenge. We report this case to emphasize the need to explore the associated risk factors and consider neurosyphilis as a potential diagnosis because timely recognition and early treatment are essential to prevent irreversible neurological consequences.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"3745783"},"PeriodicalIF":0.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13080497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697403","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}

{"title":"A Case of Bilateral Globus Pallidus Infarction Onset With Mental Disorder.","authors":"Yingxia Li, Xiaoming Chen, Tianhong Wang","doi":"10.1155/crnm/4539486","DOIUrl":"10.1155/crnm/4539486","url":null,"abstract":"<p><p>Bilateral globus pallidus lesions are closely linked to neuropsychiatric manifestations; however, bilateral globus pallidus infarction is frequently misdiagnosed owing to its nonspecific clinical presentation. We report a 45-year-old female patient who initially presented with mental disturbance (akinetic mutism, memory impairment, and sleep rhythm disorder) without typical motor deficits. Comprehensive head and neck imaging (including DSA, CTA, and multimodal MRI) combined with extensive laboratory investigations-excluding metabolic, toxic, and inflammatory etiologies-led to the final diagnosis of bilateral symmetric globus pallidus infarction secondary to bilateral internal carotid artery dissection (ICAD). Notably, the patient had a recent neck massage, which may have precipitated ICAD. Following dual antiplatelet therapy and endovascular stent placement for severe left ICA stenosis, the patient achieved significant clinical improvement at 2-month follow-up. This case highlights the potential association between neck massage and ICAD-induced bilateral globus pallidus infarction and emphasizes the importance of multimodal imaging in differentiating vascular mental disorders from primary psychiatric illnesses. Our findings provide new insights into the clinical spectrum and pathogenic mechanisms of this rare condition, aiming to facilitate early recognition and targeted management by clinicians.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"4539486"},"PeriodicalIF":0.7,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13071527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688472","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}

{"title":"A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.","authors":"Lisle Blackbourn, Jayishnu Srinivas, Maher Salem, Usha Janapala","doi":"10.1155/crnm/1884299","DOIUrl":"10.1155/crnm/1884299","url":null,"abstract":"<p><p>Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder characterized by the triad of facial capillary malformations, ocular abnormalities, and leptomeningeal angiomatosis which can lead to neurological manifestations such as seizures, intellectual disability, and stroke-like episodes. This case report describes a 45-year-old African American female who presented with status epilepticus and stroke-like symptoms, ultimately diagnosed with SWS based on characteristic imaging findings, with an apparent previously missed port-wine stain. This case highlights the diagnostic and management challenges of SWS in adulthood, particularly in African American patients, where the characteristic cutaneous features may be less apparent. The patient's presentation with status epilepticus and acute infarct underscores the fluctuating or episodic neurologic nature of SWS and the need for prompt diagnosis and management.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1884299"},"PeriodicalIF":0.7,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13066755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670170","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}

{"title":"Efficacy of Ravulizumab During the Acute Phase of Neuromyelitis Optica Spectrum Disorder.","authors":"Koji Tsuzaki, Goro Mitsui, Yasunobu Inagaki, Naoko Uehara, Shinichi Wada, Toshiaki Hamano","doi":"10.1155/crnm/1518364","DOIUrl":"10.1155/crnm/1518364","url":null,"abstract":"<p><strong>Background: </strong>Ravulizumab is effective in preventing relapse of neuromyelitis optica spectrum disorder (NMOSD). However, its efficacy during the acute phase of NMOSD has rarely been reported.</p><p><strong>Case: </strong>We report the case of a 66-year-old woman with anti-aquaporin-4 antibody-positive NMOSD. Six years ago, the patient had impaired vision and visual field loss in her right eye and received steroid therapy at another hospital for 6 months, after which no further treatment was given. On admission, she presented with weakness in both lower limbs, numbness from the chest to the lower body, and impaired bladder sensation. Neurological examination revealed bilateral lower limb weakness and hypoesthesia below the 4th thoracic spinal segment. The Expanded Disability Status Scale (EDSS) score was 3.5. Cerebrospinal fluid examination revealed mild cytosis, elevated protein levels, an elevated immunoglobulin G index, and positive oligoclonal bands. Magnetic resonance imaging revealed longitudinally extensive transverse myelitis from the 2nd to 8th thoracic vertebral levels. She was diagnosed with a relapse of NMOSD. After one course of steroid pulse therapy, she developed complete paraplegia in both legs. The EDSS score was 8.5. Immunoadsorption therapy, prednisolone, and azathioprine were initiated; however, these treatments were ineffective. Ravulizumab was administered immediately after immunoadsorption therapies. Treatment with prednisolone, azathioprine, and ravulizumab was continued. Her symptoms gradually improved, and prednisolone was gradually tapered and discontinued. She could walk independently after 6 months. The EDSS score was 3.5 at the time of discharge.</p><p><strong>Conclusion: </strong>Ravulizumab may be a viable treatment option when administered during the acute phase of NMOSD.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1518364"},"PeriodicalIF":0.7,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13051777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632325","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}

{"title":"COVID-19-Associated Reversible Cerebral Vasoconstriction Syndrome: A Rare Case of Secondary Thunderclap Headache.","authors":"Seraj Makkawi, Osama Khojah, Mohammed Alsalmi, Adilah Alturaifi, Bader Ibrahim, Abdulrahman Alshamy","doi":"10.1155/crnm/4136897","DOIUrl":"10.1155/crnm/4136897","url":null,"abstract":"<p><p>Reversible cerebral vasoconstriction syndrome (RCVS) is a condition characterized by severe, sudden headaches, and transient cerebral artery constriction, often triggered by medications, physical activities, or comorbidities. Recent studies have linked RCVS to SARS-CoV-2 infection. This case report presents a novel instance of RCVS with nonaneurysmal subarachnoid hemorrhage (SAH) following COVID-19. A 44-year-old female with COVID-19 presented with a sudden, severe headache, confusion, dizziness, and photophobia. Imaging revealed extensive SAH and hydrocephalus. Despite the absence of classic RCVS triggers, a cerebral angiogram showed multifocal vasospasms in both anterior and posterior circulations which later resolved on repeat cerebral angiography. The patient's condition improved with external ventricular drainage followed by symptomatic treatment. She was diagnosed with RCVS after achieving an RCVS₂ score of seven points. She had a final modified Rankin scale of zero at 40-month follow-up. This case highlights the potential association between COVID-19 and RCVS, even in the absence of common triggers. While causality cannot be definitively established, the temporal relationship and plausible biological mechanisms warrant further investigation. This report underscores the importance of considering RCVS in patients with neurological symptoms following COVID-19 and contributes to the understanding of the virus's impact on the vasculature.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"4136897"},"PeriodicalIF":0.7,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13101449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763091","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}

{"title":"Kikuchi-Fujimoto Disease Presenting With Complex Neurological Manifestations: A Case Report.","authors":"Yusuf Kagzi, Suban Amatya, Ashutosh Gupta, Kanika Sharma, Shitiz Sriwastava","doi":"10.1155/crnm/9336826","DOIUrl":"10.1155/crnm/9336826","url":null,"abstract":"<p><p>Kikuchi-Fujimoto Disease (KFD) is a rare, typically self-limiting inflammatory condition primarily associated with fever, cervical lymphadenopathy, and occasionally small-vessel vasculitis. Central nervous system (CNS) involvement in KFD is exceedingly rare and has been described in isolated cases, including encephalitis, aseptic meningitis, and peripheral neuropathy. We described the case of a 43-year-old male of Indian descent who presented with a complex medical history of gait imbalance, falls, and slowness in daily activities, dysarthria, dysphagia, and excessive sleepiness, which had been progressively worsening over the past 16 months. His prior medical records included a diagnosis of Kikuchi disease in 2014, which manifested with fever and lymphadenopathy and resolved following steroid therapy. Subsequent evaluations ruled out other autoimmune and paraneoplastic conditions. Ultimately, a diagnosis of CNS involvement secondary to Kikuchi disease, possibly with vasculitis-mediated pathology, was established. The patient was managed with rituximab, which significantly improved his symptoms. This case highlights the importance of considering rare and atypical neurological presentations of Kikuchi disease, along with the diagnostic challenges they pose. It is essential to conduct a thorough diagnostic workup that considers the full spectrum of disease presentations and tailors treatment to the specific underlying condition. Further, this case is an atypical and progressive presentation of KFD with extensive CNS involvement, emphasizing the role of vasculitis-mediated pathology in such presentations and the effectiveness of rituximab in managing refractory cases.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"9336826"},"PeriodicalIF":0.7,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13329759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148390053","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}