{"title":"Headache in a Patient with Anti-Leucine-Rich Glioma Inactivated 1 Autoimmune Encephalitis Responding to Rituximab.","authors":"Deepak D Danigondra, Pooja Mailankody, Bharath Ravindra, Rohan Mahale, Hansashree Padmanabha","doi":"10.4103/aian.aian_1076_25","DOIUrl":"https://doi.org/10.4103/aian.aian_1076_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147324096","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}
Pub Date : 2026-02-27DOI: 10.4103/aian.aian_1071_25
Hitesh Poonia, Ashish Jha, Aditi Dhaka, Sarthak Chakrabarti, Prateek K Panda, Indar K Sharawat
{"title":"Acute Necrotising Pancreatitis: A Dreadful Complication Secondary to Valproate Usage in a Female Child with Neurocysticercosis.","authors":"Hitesh Poonia, Ashish Jha, Aditi Dhaka, Sarthak Chakrabarti, Prateek K Panda, Indar K Sharawat","doi":"10.4103/aian.aian_1071_25","DOIUrl":"https://doi.org/10.4103/aian.aian_1071_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147324118","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}
Pub Date : 2026-02-23DOI: 10.4103/aian.aian_739_25
Omer L Gundogdu, Ayhan Kanat, Bulent Ozdemir, Serdar Durmaz, Cihangir Erturk, Tugba Yemis, Deniz Sirinoglu
{"title":"The Relationship between the Contralateral Posterior Cerebral Circulation Stroke and the Ponticulus Posticus Anomaly: First Report of a Hidden Culprit of the Cause of Stroke.","authors":"Omer L Gundogdu, Ayhan Kanat, Bulent Ozdemir, Serdar Durmaz, Cihangir Erturk, Tugba Yemis, Deniz Sirinoglu","doi":"10.4103/aian.aian_739_25","DOIUrl":"https://doi.org/10.4103/aian.aian_739_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147275547","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}
Pub Date : 2026-02-23DOI: 10.4103/aian.aian_870_25
Bagath S Balaji, Soma Basu, Ranjith K Manokaran, R Lakshmi Narasimhan, Hemamalini A Janardhanam
{"title":"Successful Management of Refractory Seizures in a Pediatric Patient with DLG3-Associated Epilepsy Using the Ketogenic Diet.","authors":"Bagath S Balaji, Soma Basu, Ranjith K Manokaran, R Lakshmi Narasimhan, Hemamalini A Janardhanam","doi":"10.4103/aian.aian_870_25","DOIUrl":"https://doi.org/10.4103/aian.aian_870_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147275545","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}
Pub Date : 2026-02-23DOI: 10.4103/aian.aian_953_25
Karthick K Vaitheeswaran, Anuj Ajayababu, Adil R Khan, K M Karthik, Shariq A Shah, Sailaxmi Mahapatra, Manish Soneja, Ajay Garg, Neeraj Nischal, Gagandeep Singh, Immaculata Xess, Naveet Wig
{"title":"Fungal Brain Abscess Due to Cladophialophora Bantiana in a Young Male: Neuroimaging Clues to Early Diagnosis.","authors":"Karthick K Vaitheeswaran, Anuj Ajayababu, Adil R Khan, K M Karthik, Shariq A Shah, Sailaxmi Mahapatra, Manish Soneja, Ajay Garg, Neeraj Nischal, Gagandeep Singh, Immaculata Xess, Naveet Wig","doi":"10.4103/aian.aian_953_25","DOIUrl":"https://doi.org/10.4103/aian.aian_953_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147275553","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}
Pub Date : 2026-02-17DOI: 10.4103/aian.aian_920_25
Nitish Kamble, Abhishek Lenka, B C Nagaraju, Shweta Prasad, Chesta Arora, Vikram V Holla, Shyam Sundar Arumugham, Yc Janardhan Reddy, Pramod K Pal
{"title":"Clinical and Electrophysiological Profile of Patients with Functional Hiccups.","authors":"Nitish Kamble, Abhishek Lenka, B C Nagaraju, Shweta Prasad, Chesta Arora, Vikram V Holla, Shyam Sundar Arumugham, Yc Janardhan Reddy, Pramod K Pal","doi":"10.4103/aian.aian_920_25","DOIUrl":"10.4103/aian.aian_920_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146211721","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}
Pub Date : 2026-02-06DOI: 10.4103/aian.aian_1066_25
Anand S Mishra, Hitesh Poonia, Aditi Chahal, Sarthak Chakrabarti, Prateek K Panda, Indar K Sharawat
{"title":"Acquired Motor-Sensory Polyneuropathy as a Rare Manifestation of Seronegative Celiac Disease in an Adolescent Boy.","authors":"Anand S Mishra, Hitesh Poonia, Aditi Chahal, Sarthak Chakrabarti, Prateek K Panda, Indar K Sharawat","doi":"10.4103/aian.aian_1066_25","DOIUrl":"https://doi.org/10.4103/aian.aian_1066_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146130991","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":"A Rare Case of Anti-CASPR2 Encephalitis as the Presenting Manifestation of Hepatitis B Virus Infection.","authors":"Sabyasachi Pattnayak, Abinash Swain, Himanshu S Satapathy, Manasi Das, Chitralekha Naik","doi":"10.4103/aian.aian_899_25","DOIUrl":"https://doi.org/10.4103/aian.aian_899_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146099570","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}
Abstract: Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV, PIGY, PIGO, PGAP2, PIGW, and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4.
摘要/ Abstract摘要：高磷酸症伴智力迟钝综合征（Hyperphosphatasia with mental retardp syndrome， HPMRS）是一种罕见的遗传性疾病，以发育迟缓/智力残疾、癫痫发作、畸形特征和多种先天性异常为特征，并伴有碱性磷酸酶升高。它是一种常染色体隐性遗传病，由参与糖基磷脂酰肌醇生物合成的PIGV、PIGY、PIGO、PGAP2、PIGW和PGAP3基因纯合或复合杂合突变引起。PGAP3基因突变导致4型HPMRS。
{"title":"The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.","authors":"Şeyda Beşen, Yasemin Özkale, Özlem Sangün, İlknur Erol","doi":"10.4103/aian.aian_830_25","DOIUrl":"https://doi.org/10.4103/aian.aian_830_25","url":null,"abstract":"<p><strong>Abstract: </strong>Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV, PIGY, PIGO, PGAP2, PIGW, and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146099517","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}
Abstract: Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene, leading to defective triglyceride hydrolysis and lipid accumulation in tissues. We report a 28-year-old Indian female presented with a 4-year history of progressive, asymmetric limb weakness, elevated creatine kinase (1000 U/L), and vitiligo. Muscle magnetic resonance imaging (MRI) revealed asymmetric fatty infiltration. Muscle biopsy showed subtle vacuolar changes; notably, oil red O staining was negative, a known limitation in formalin-fixed tissue. Whole-exome sequencing identified a novel, likely pathogenic homozygous frameshift mutation, c. 212del, in exon 3 of PNPLA2, absent in population databases (gnomAD, ClinVar) and classified as likely pathogenic as per American College of Medical Genetics and Genomics (ACMG) criteria (PVS1, PM2). This case underscores the phenotypic variability of NLSDM and expands the genetic spectrum of the disease in the Indian population, highlighting the critical role of genetic testing for definitive diagnosis-particularly when histopathological lipid staining is unrevealing.
{"title":"Neutral Lipid Storage Disease with Myopathy: A Case Report with a Novel PNPLA2 Mutation.","authors":"Soaham Desai, Arth Shah, Shruthi Neelamegam, Anita Mahadevan","doi":"10.4103/aian.aian_881_25","DOIUrl":"https://doi.org/10.4103/aian.aian_881_25","url":null,"abstract":"<p><strong>Abstract: </strong>Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene, leading to defective triglyceride hydrolysis and lipid accumulation in tissues. We report a 28-year-old Indian female presented with a 4-year history of progressive, asymmetric limb weakness, elevated creatine kinase (1000 U/L), and vitiligo. Muscle magnetic resonance imaging (MRI) revealed asymmetric fatty infiltration. Muscle biopsy showed subtle vacuolar changes; notably, oil red O staining was negative, a known limitation in formalin-fixed tissue. Whole-exome sequencing identified a novel, likely pathogenic homozygous frameshift mutation, c. 212del, in exon 3 of PNPLA2, absent in population databases (gnomAD, ClinVar) and classified as likely pathogenic as per American College of Medical Genetics and Genomics (ACMG) criteria (PVS1, PM2). This case underscores the phenotypic variability of NLSDM and expands the genetic spectrum of the disease in the Indian population, highlighting the critical role of genetic testing for definitive diagnosis-particularly when histopathological lipid staining is unrevealing.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146099563","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号