Case Reports in Neurological Medicine最新文献

Mixed Connective Tissue Disease (MCTD): A Rare Presentation of Probable Central Nervous System (CNS) Vasculitis. 混合性结缔组织病（MCTD）：可能的中枢神经系统（CNS）血管炎的罕见表现。

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Case Reports in Neurological Medicine Pub Date : 2026-10-17 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/1782813

Arpan Mitra, Niraj Kumar Srivastava, Ankur Vivek, Nayana Bhuyan, Rukhsar Parveen, Vijaya Nath Mishra, Abhishek Pathak

{"title":"Mixed Connective Tissue Disease (MCTD): A Rare Presentation of Probable Central Nervous System (CNS) Vasculitis.","authors":"Arpan Mitra, Niraj Kumar Srivastava, Ankur Vivek, Nayana Bhuyan, Rukhsar Parveen, Vijaya Nath Mishra, Abhishek Pathak","doi":"10.1155/crnm/1782813","DOIUrl":"10.1155/crnm/1782813","url":null,"abstract":"Mixed connective tissue disease (MCTD) may rarely involve the central nervous system (CNS), and CNS vasculitis can present with acute seizures, altered consciousness, and focal neurological deficits. We report a 27-year-old woman with a seven-year history of arthralgia, morning stiffness, intermittent fever, and malaise who developed acute seizures, altered sensorium, and hemiparesis approximately two weeks before hospital admission. Laboratory evaluation demonstrated severe anemia, thrombocytopenia, elevated inflammatory markers, and positive anti-U1 ribonucleoprotein (U1-RNP) antibodies. Cerebrospinal fluid (CSF) showed lymphocyte-predominant pleocytosis and markedly elevated protein, while brain MRI demonstrated multifocal confluent subcortical and periventricular lesions with restricted diffusion. Based on clinical, serological, CSF, and neuroimaging findings, MCTD-associated CNS vasculitis was considered probable. The patient received broad-spectrum antibiotics and antiseizure and antihypertensive therapy, followed by methylprednisolone pulses, oral prednisolone, and hydroxychloroquine, with significant neurological improvement at discharge. Cyclophosphamide therapy was planned; however, no subsequent follow-up data were available. This case emphasizes the need to consider CNS involvement in patients with MCTD while recognizing the limitations of imaging specificity and incomplete long-term follow-up.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"1782813"},"PeriodicalIF":0.7,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215149","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

Cerebral Manifestation of Miliary Tuberculosis Mimicking a Parasitic CNS Infection. 模拟寄生性中枢神经系统感染的军事结核的脑表现。

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Case Reports in Neurological Medicine Pub Date : 2026-10-12 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/9275005

Daniel Martens, Fatma Merzou, Nils Schroeter, Malvina Garner, Wolfgang Reith, Sergiu Groppa, Yaroslav Winter

{"title":"Cerebral Manifestation of Miliary Tuberculosis Mimicking a Parasitic CNS Infection.","authors":"Daniel Martens, Fatma Merzou, Nils Schroeter, Malvina Garner, Wolfgang Reith, Sergiu Groppa, Yaroslav Winter","doi":"10.1155/crnm/9275005","DOIUrl":"10.1155/crnm/9275005","url":null,"abstract":"The neuroradiological findings of central nervous system (CNS) manifestations of miliary tuberculosis can be misinterpreted as parasitic infections due to their low prevalence in the European population. We present the case of a 30-year-old woman in whom CNS tuberculosis was initially misdiagnosed as a parasitic infection due to the absence of pulmonary symptoms. She immigrated to Germany from Madagascar and had lived in Europe for 14 months by the time she presented to our department with an incidental MRI finding suggestive of a manifestation of toxoplasmosis. The T1-weighted axial brain MRI scan revealed multifocal, rim-enhancing lesions that were suggestive of parasitic infection. Following a chest CT scan that revealed miliary tuberculosis, the diagnosis was revised to neurotuberculosis. This was confirmed by a polymerase chain reaction (PCR) that detected the Mycobacterium tuberculosis complex in the sputum sample. The patient achieved remission following 12 months of antituberculosis therapy. In conclusion, neurotuberculosis should be considered in the differential diagnosis of infections presenting with multifocal CNS manifestations on neuroimaging scans in European patients, particularly those with a migration background.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"9275005"},"PeriodicalIF":0.7,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179509","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

UNC5A IgG in a Previously Reported CASPR2/LGI1-Negative VGKC-Associated Peripheral Nerve Hyperexcitability Syndrome: Long-Term Clinical and Electrophysiological Follow-Up. UNC5A IgG在先前报道的CASPR2/ lgi1阴性vgkc相关周围神经高兴奋性综合征中的作用：长期临床和电生理随访

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Case Reports in Neurological Medicine Pub Date : 2026-10-04 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/5816975

Birte Eikeland

{"title":"UNC5A IgG in a Previously Reported CASPR2/LGI1-Negative VGKC-Associated Peripheral Nerve Hyperexcitability Syndrome: Long-Term Clinical and Electrophysiological Follow-Up.","authors":"Birte Eikeland","doi":"10.1155/crnm/5816975","DOIUrl":"https://doi.org/10.1155/crnm/5816975","url":null,"abstract":"Autoimmune peripheral nerve hyperexcitability (PNH) syndromes are most commonly associated with antibodies against CASPR2 or LGI1. However, a subset of patients with clinically and electrophysiologically confirmed PNH remains negative for these established neuronal surface antibodies despite persistent VGKC antibody positivity. This report presents the long-term follow-up of a patient previously diagnosed with a Morvan-like autoimmune PNH syndrome following enteroviral infection. Serial neurophysiological studies demonstrated persistent motor axonal hyperexcitability, while treatment with intravenous immunoglobulin (IVIg) resulted in sustained clinical stabilization and substantial functional improvement. Additional research-based immunological analyses identified UNC5A IgG reactivity in serum using a live cell-based assay. UNC5A antibodies have previously been identified predominantly in the context of thymoma-associated neuromyotonia, including patients with Morvan syndrome and myasthenia gravis, often in association with CASPR2 antibodies. The identification of UNC5A IgG in a patient with electrophysiologically confirmed CASPR2/LGI1-negative PNH and persistent VGKC antibodies represents a hypothesis-generating association rather than evidence of a causal or pathogenic role. UNC5A IgG may represent an associated biomarker or a secondary immune phenomenon within a broader autoimmune response. This observation extends the clinical context in which UNC5A reactivity has been identified and supports further investigation of UNC5A and other candidate neuronal surface antigens in CASPR2/LGI1-negative PNH.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"5816975"},"PeriodicalIF":0.7,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149104789","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

Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia-A Case Report. 同一部位两次雷击：线粒体肌病和恶性高热1例报告。

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Case Reports in Neurological Medicine Pub Date : 2026-09-29 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/5802797

Rafaela Souto E Souza de Melo, Jorge Kiyoshi Mitsunaga Júnior, André Macedo Serafim da Silva, Brandow Willy Souza, Joilson Moura Santos, Pamela Vieira Andrade, Acary Souza Bulle Oliveira, Claudia Ferreira da Rosa Sobreira, Mariz Vainzof, Helga Cristina Almeida da Silva

引用次数: 0

Eosinophilic Granulomatosis With Polyangiitis Presenting With Rare Neurological Manifestations. 嗜酸性肉芽肿病伴多血管炎，表现罕见的神经系统症状。

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Case Reports in Neurological Medicine Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/5515152

Valérie Gagnon Bruneau, Anne-Marie Lavigne

{"title":"Eosinophilic Granulomatosis With Polyangiitis Presenting With Rare Neurological Manifestations.","authors":"Valérie Gagnon Bruneau, Anne-Marie Lavigne","doi":"10.1155/crnm/5515152","DOIUrl":"10.1155/crnm/5515152","url":null,"abstract":"Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare disease characterized by inflammation of small and medium-sized blood vessels, leading to damage in various organs. It is classically associated with asthma, eosinophilia, and multisystem involvement, including frequent peripheral nervous system manifestations. We report the case of a 72-year-old woman with a history of asthma, rhinitis, and strokes, who presented with progressive muscle weakness, myalgia, and distal sensory deficits. Neurological examination revealed proximal muscle weakness and a length-dependent sensory loss. Laboratory investigations demonstrated marked eosinophilia, elevated creatine kinase, and positive antimyeloperoxidase antibodies with an atypical cytoplasmic ANCA pattern. Imaging showed diffuse muscular hypermetabolism on positron emission tomography, while electromyography and nerve conduction studies revealed a length-dependent axonal polyneuropathy with mild myopathic features. Muscle biopsy demonstrated mild nonspecific myopathic changes without definite evidence of vasculitis or eosinophilic infiltrates. Based on the 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria, a diagnosis of EGPA with neurological involvement was established. The patient was treated with high-dose corticosteroids and rituximab, resulting in significant clinical and biochemical improvement at 3 months. This case illustrates the coexistence of atypical neurological manifestations of EGPA, including prominent myopathy, length-dependent polyneuropathy, and retrospectively suspected central nervous system vasculitic involvement, emphasizing the importance of early recognition and multidisciplinary management.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"5515152"},"PeriodicalIF":0.7,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975835","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

Acute Cauda Equina Syndrome With Clinicoradiological Discordance Treated via Unilateral Biportal Endoscopy: A Case Report. 单侧双门静脉内镜治疗急性马尾综合征伴临床放射学不一致1例。

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Case Reports in Neurological Medicine Pub Date : 2026-09-12 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/9001940

Qiudong Wu, Yujian Zhang, Jiahao Han, Weidong Guo, Bo Liao

{"title":"Acute Cauda Equina Syndrome With Clinicoradiological Discordance Treated via Unilateral Biportal Endoscopy: A Case Report.","authors":"Qiudong Wu, Yujian Zhang, Jiahao Han, Weidong Guo, Bo Liao","doi":"10.1155/crnm/9001940","DOIUrl":"10.1155/crnm/9001940","url":null,"abstract":"Cauda equina syndrome (CES) is a severe neurosurgical emergency typically caused by lumbar disc herniation. Its diverse clinical manifestations include radiating lower limb pain, numbness, decreased muscle strength, saddle anesthesia or reduced perineal sensation, bladder and bowel dysfunction (such as urinary retention and constipation), and sexual dysfunction. Early diagnosis and timely decompression surgery are crucial for improving prognosis. Currently, literature reporting the use of unilateral biportal endoscopy (UBE) for treating radiologically atypical CES remains scarce. We report a 21-year-old male patient who presented with the sudden onset of left lower extremity pain and numbness resulting in an antalgic posture, accompanied by acute urinary retention and constipation. Physical examination confirmed cauda equina syndrome with retention (CES-R). Although lumbar magnetic resonance imaging (MRI) revealed a paracentral recess lesion with less central canal compromise than expected for the severity of the symptoms (Schizas Grade A), the patient underwent urgent UBE surgery due to the acute clinical presentation. Postoperatively, the antalgic posture resolved immediately, and the urinary retention and constipation completely resolved within 24 h. Six months postoperatively, the patient demonstrated complete neurological recovery and significantly improved quality of life. Ultimately, this case demonstrates that UBE represents a safe, feasible, and effective alternative option for emergency decompression in acute CES characterized by clinicoradiological discordance, allowing for thorough lateral recess exploration and motion preservation that leads to a favorable neurological recovery.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"9001940"},"PeriodicalIF":0.7,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13570325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148954870","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

External Carotid Artery Pseudoaneurysm: A Rare Cause of Ischemic Stroke via Internal Carotid Artery Compression-A Case Report. 颈外动脉假性动脉瘤：颈内动脉压迫导致缺血性脑卒中的罕见病因1例。

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Case Reports in Neurological Medicine Pub Date : 2026-09-11 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/4572560

Harsimran Kaur, Nihas Mateti, Gabrielle Feher, Romil Singh, Russell Cerejo

{"title":"External Carotid Artery Pseudoaneurysm: A Rare Cause of Ischemic Stroke via Internal Carotid Artery Compression-A Case Report.","authors":"Harsimran Kaur, Nihas Mateti, Gabrielle Feher, Romil Singh, Russell Cerejo","doi":"10.1155/crnm/4572560","DOIUrl":"10.1155/crnm/4572560","url":null,"abstract":"Pseudoaneurysms (PSAs) typically result from trauma, but their complications beyond rupture and bleeding remain understudied. We present a case of a 75-year-old male with atrial fibrillation who sustained a gunshot wound to the face, resulting in a left internal maxillary artery PSA. The patient was initially managed conservatively but developed right-sided hemiplegia and aphasia 14 days postinjury. CT angiography revealed near-complete occlusion of the left cervical internal carotid artery (ICA) due to extrinsic compression from the expanding PSA, originating from a branch of the external carotid artery (ECA). Emergent digital subtraction angiography confirmed ICA occlusion, and successful embolization of the PSA resulted in recanalization of the ICA and immediate neurological improvement. This case highlights a rare but significant complication of ECA-PSAs: ICA compression leading to ischemic stroke. This report underscores the importance of considering PSA-induced ICA compression as a potential cause of ischemic stroke in trauma patients, especially when neurological deficits develop. Prompt diagnosis and intervention are crucial for optimal patient outcomes.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"4572560"},"PeriodicalIF":0.7,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148954806","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

Hypoglycemic Encephalopathy in a Patient With Diabetes Mellitus: A Case Report. 糖尿病患者低血糖性脑病1例报告。

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Case Reports in Neurological Medicine Pub Date : 2026-09-07 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/3096417

Zerihun Bogale Deferu, Gemechu Geleto Beriso, Dawit Yosef Barkesa, Gutu Daba Kumsa

{"title":"Hypoglycemic Encephalopathy in a Patient With Diabetes Mellitus: A Case Report.","authors":"Zerihun Bogale Deferu, Gemechu Geleto Beriso, Dawit Yosef Barkesa, Gutu Daba Kumsa","doi":"10.1155/crnm/3096417","DOIUrl":"10.1155/crnm/3096417","url":null,"abstract":"Hypoglycemic encephalopathy (HE) is a rare yet critical consequence of extended low blood sugar, often resulting in altered mental status, seizures, and coma. Because its presentation mirrors various other neurological disorders, prompt recognition is difficult, and treatment delays risk permanent brain damage. This report describes a 56-year-old Black man with Type 1 diabetes mellitus (DM) on Neutral Protamine Hagedorn (NPH) insulin who discovered nonresponsiveness roughly eight hours post insulin injection. Upon admission, he was presented with a blood glucose of 43 mg/dL and a Glasgow Coma Scale (GCS) score of 7/15, with brain magnetic resonance imaging (MRI) findings consistent with HE. Despite immediate treatment with intravenous (IV) 40% dextrose (50 mL), a continuous dextrose-saline infusion, and antiepileptic medication to control seizures, his neurological function stabilized without further improvement, leaving his GCS score between 8 and 10. Following a four-month period of stabilization during home care the patient developed pneumonia and septicemia in the fifth month. This complication triggered progressive neurological deterioration, ultimately resulting in death at five months postevent. This case underscores the importance of timely detection and treatment of hypoglycemia in diabetic patients, particularly those receiving insulin. Regular glucose monitoring, patient education, and careful insulin adjustment are essential to prevent HE and its devastating outcomes.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"3096417"},"PeriodicalIF":0.7,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13548777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905194","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

Very Early Short-Course Cerebrolysin After Tenecteplase and Mechanical Thrombectomy: A Case Report. 替奈替普酶和机械取栓术后早期短期溶脑素1例。

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Case Reports in Neurological Medicine Pub Date : 2026-08-28 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/9962315

Hanna Ziąbska, Adam Kobayashi, Michał Karliński

{"title":"Very Early Short-Course Cerebrolysin After Tenecteplase and Mechanical Thrombectomy: A Case Report.","authors":"Hanna Ziąbska, Adam Kobayashi, Michał Karliński","doi":"10.1155/crnm/9962315","DOIUrl":"10.1155/crnm/9962315","url":null,"abstract":"Despite high recanalization rates with mechanical thrombectomy (MT), large-vessel occlusion stroke results in death or dependency in over half of patients. Cerebrolysin, a multimodal neuropeptide preparation, may attenuate ischemia-reperfusion injury and support early neurorehabilitation. We report a 88-year-old woman with moderate prestroke disability who presented 2 h after the onset of right hemiparesis and aphasia due to M2 occlusion of the left middle cerebral artery. She received intravenous tenecteplase followed by MT, achieving complete reperfusion after three passes with no direct complications and no immediate clinical improvement. Directly postprocedure, cerebrolysin 30 mL/day was initiated as adjunctive treatment. Over the next 24 h, neurological deficits gradually resolved with no hemorrhagic transformation or evident infarct on follow-up CT. As the patient did not require early intensive rehabilitation and regained her prestroke functional status, cerebrolysin was discontinued after three doses. This report is not intended to establish the therapeutic efficacy of short-course adjunctive cerebrolysin. It illustrates how clinical signals from randomized and observational studies can be interpreted for the purpose of individual therapeutic decisions.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"9962315"},"PeriodicalIF":0.7,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13522924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849831","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

Identification of a Novel SLC18A2 Splicing Variant in a Case of Infantile Parkinsonism-Dystonia Type 2. 一种新的SLC18A2剪接变异在婴儿帕金森- 2型肌张力障碍中的鉴定

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Case Reports in Neurological Medicine Pub Date : 2026-08-25 eCollection Date: 2026-01-01 DOI: 10.1155/crnm/2230320

Ali Nikkhah, Reza Shervin Badv, Seyed Amir Hasan Habibi, Giovanna Zorzi, Maryam Mehdizadeh

{"title":"Identification of a Novel SLC18A2 Splicing Variant in a Case of Infantile Parkinsonism-Dystonia Type 2.","authors":"Ali Nikkhah, Reza Shervin Badv, Seyed Amir Hasan Habibi, Giovanna Zorzi, Maryam Mehdizadeh","doi":"10.1155/crnm/2230320","DOIUrl":"10.1155/crnm/2230320","url":null,"abstract":"Parkinsonism-dystonia Type 2 (PKDYS2) is a rare autosomal recessive disorder caused by SLC18A2 variants affecting the vesicular monoamine transporter 2 (VMAT2). We report the first genetically confirmed Iranian patient, an 18-month-old boy presenting with profound developmental delay, axial hypotonia, limb hypertonia, dystonia, oculogyric crises, ptosis, and autonomic dysfunction. Brain MRI, metabolic studies, and neurophysiological evaluations were normal. Whole-exome sequencing identified a novel homozygous canonical splice-site variant in SLC18A2 (NM_003054.6:c.1071-2A > G), confirmed by Sanger sequencing and absent from population databases. SpliceAI predicted loss of the native splice acceptor site (DS_AL = 0.74), supporting a deleterious effect on RNA splicing. According to ACMG criteria, the variant was classified as likely pathogenic. Levodopa-benserazide failed to provide sustained benefit and caused irritability and insomnia, whereas pramipexole produced modest improvement in bradykinesia, ptosis, and sweating with persistence of dystonia and oculogyric crises. Comparison with reported international cases shows a consistent phenotype and limited therapeutic response. This case expands the mutational spectrum of SLC18A2-related disease and highlights the importance of early genetic diagnosis.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2026 ","pages":"2230320"},"PeriodicalIF":0.7,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13505190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148817556","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