Annals of Indian Academy of Neurology最新文献

{"title":"Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.","authors":"Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Vikas Krishnanada, Rima Sathyakumar, Anita Mahadevan","doi":"10.4103/aian.aian_999_24","DOIUrl":"https://doi.org/10.4103/aian.aian_999_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762636","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}

{"title":"Expression of Human Myxovirus Resistance Protein 1 (MxA) in Shunt Infections.","authors":"Reza Syahputra, Dian Kesumapramudya Nurputra, Agung Triono, Elisabeth Siti Herini","doi":"10.4103/aian.aian_895_24","DOIUrl":"https://doi.org/10.4103/aian.aian_895_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762608","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}

{"title":"Dengue-Associated Myelin Oligodendrocyte Glycoprotein Antibody-Positive Longitudinally Extensive Transverse Myelitis.","authors":"Shubhakaran Khichar, Pradeep Lalwani, Nidhi Yadav","doi":"10.4103/aian.aian_1058_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1058_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762605","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}

{"title":"Hidden Culprit: Middle Cerebral Artery Fenestration as an Overlooked Cause of Stroke in a 4 Year Old.","authors":"Pallav Bhatter, Vipul Gupta, Pallav Kumar, Dusa Srinivas Rao, Ujjwal Agarwal, Rajsrinivas Parthasarathy","doi":"10.4103/aian.aian_1088_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1088_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707996","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}

{"title":"Arterial and Venous Infarcts: Dual Phenotypes of Dual Heterozygous MTHFR Gene Mutation.","authors":"Himanshu Kaushal, Balveen Singh, Jigdel Tenzing Wangdi, Anush Jain, Kunal Suri","doi":"10.4103/aian.aian_936_24","DOIUrl":"https://doi.org/10.4103/aian.aian_936_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707891","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}

{"title":"Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications-Challenges in Diagnosis and Management.","authors":"Vykuntaraju K Gowda, Priyanka A Nayak, Uddhava V Kinhal, Amaresh Roy, Varunvenkat M Srinivasan","doi":"10.4103/aian.aian_920_24","DOIUrl":"https://doi.org/10.4103/aian.aian_920_24","url":null,"abstract":"<p><strong>Abstract: </strong>Acute intermittent porphyria (AIP) is a dominant mendelian disorder caused due to deficiency of the enzyme porphobilinogen deaminase. It classically presents with pain abdomen, hypertensive crisis, electrolyte imbalance, mostly hyponatremia, and neuropsychiatric involvement. We report a case of a 12-year-old boy with AIP who experienced an acute crisis and later developed altered sensorium and seizures. Upon evaluation, he was found to have severe hyponatremia, which was secondary to the syndrome of inappropriate antidiuretic hormone secretion. His condition was corrected with intravenous hypertonic saline, and his sodium levels normalized over 2-3 days. Despite the successful correction of sodium levels, he developed extrapyramidal symptoms a week later. Magnetic resonance imaging of the brain revealed extrapontine myelinolysis. He was treated with intravenous steroids, which led to significant improvement. At 1-month follow-up, there were no neurological deficits.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676697","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}

{"title":"Jaw-Opening Myoclonus: A Rare and Distinctive Sign in Subacute Sclerosing Panencephalitis.","authors":"Bhavani Madduluri, Suryaprabha Turaga, Yenni Harika, Sabeeha Naaz, S Arun","doi":"10.4103/aian.aian_1075_24","DOIUrl":"https://doi.org/10.4103/aian.aian_1075_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536385","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}

{"title":"Frequency, Clinical Features, and Imaging Comparisons of Seropositive versus Seronegative Autoimmune Encephalitis in a Tertiary Care Setting.","authors":"Bhavani Madduluri, Shaik A Jabeen, Reshma S Shaik, Sireesha Yareeda, Suryaprabha Turaga, Madhur K Srivastava, Charan Neeradi","doi":"10.4103/aian.aian_718_24","DOIUrl":"10.4103/aian.aian_718_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Seronegative autoimmune encephalitis (SNAIE) is an enigmatic entity which lacks detectable autoantibodies, leading to a diagnostic delay. Our objective was to study the frequency of SNAIE and compare the clinical, electrophysiological, and imaging characteristics of patients with SNAIE to those in patients with seropositive autoimmune encephalitis (SPAIE).</p><p><strong>Methods: </strong>This ambispective observational study was undertaken at a tertiary care center in South India for 7 years. The demographic data, clinical features, cerebrospinal fluid (CSF) analysis findings, electroencephalogram (EEG), and 3 T magnetic resonance imaging (MRI), and 18F fluoro-2-deoxy-d-glucose positron emission tomography computerized tomography (18F FDG PET-CT) findings were compared.</p><p><strong>Results: </strong>Of the 64 subjects enrolled, SNAIE frequency was 62.5%, with a notable 3:1 male-to-female ratio. Seizure was the predominant clinical presentation in SNAIE compared to SPAIE (50% vs. 20%, P value 0.02). Refractory seizures (45% vs. 4.5%) and status epilepticus (37.5% vs. 0%) were more common in SNAIE ( P value 0.001), whereas involuntary movements and faciobrachial dystonic seizures were common in SPAIE (66% vs. 16%, P value 0.04). CSF pleocytosis was frequently seen in SPAIE (50% vs. 17%, P value 0.006). EEG findings in SNAIE included increased epileptiform discharges and built-up rhythms. FDG PET abnormalities were observed in both groups (91% SPAIE, 97% SNAIE), but the seropositive group exhibited more temporal lobe involvement (58% vs. 30%, P = 0.036) and SNAIE had more diffuse involvement.</p><p><strong>Conclusions: </strong>SNAIE exhibited male predominance, primarily presenting with isolated seizure as the initial presentation. EEG and FDG PET findings distinguished the two groups, emphasizing the importance of these modalities as biomarkers in the early detection and management of SNAIE.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"196-204"},"PeriodicalIF":1.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Spontaneous Intracerebral Hemorrhage Management Update: Five New Things You Should Know.","authors":"Justin Yu Hin Phung, Vignan Yogendrakumar, Dar Dowlatshahi","doi":"10.4103/aian.aian_174_25","DOIUrl":"https://doi.org/10.4103/aian.aian_174_25","url":null,"abstract":"<p><p>Intracerebral hemorrhage (ICH) is a devastating condition responsible for millions of global deaths each year. Recent shifts in ICH management highlight a comprehensive care approach focusing on five pivotal components: prediction of hematoma expansion, blood pressure control, hemostasis, anticoagulation reversal, and surgical intervention. Radiological imaging allows clinicians to identify high-risk patients and implement approaches geared toward stabilizing hematoma volume to improve neurological outcomes. Surgical interventions and hematoma evacuation for cerebellar, intraventricular, and supratentorial ICH may also be used to reduce the mass effect from hematomas. This review will highlight the need to integrate all five strategies where appropriate into a bundle of care, with an emphasis on ongoing research in acute ICH management.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":"28 2","pages":"155-158"},"PeriodicalIF":1.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic Mutations in ADAM22 Presenting as Ohtahara Syndrome in an Indian Family: Expanding the Electroclinical Phenotype of ADAM22 -Related Neurologic Disorder.","authors":"Prateek Kumar Panda, Achanya Palayullakandi, Diksha Gupta, Suthiraj Sopanam, Anand Santosh Mishra, Indar Kumar Sharawat","doi":"10.4103/aian.aian_706_24","DOIUrl":"10.4103/aian.aian_706_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"282-284"},"PeriodicalIF":1.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}