Pub Date : 2026-01-22DOI: 10.4103/aian.aian_793_25
Rindha V Rao, Divya Teja Chowdary, Sireesha Yareeda, Megha S Uppin, Madhur Kumar Srivastava, Surya Prabha Turaga, Reshma Sultana Shaik
{"title":"Myasthenia Gravis and its Rare Association with Castleman's Disease.","authors":"Rindha V Rao, Divya Teja Chowdary, Sireesha Yareeda, Megha S Uppin, Madhur Kumar Srivastava, Surya Prabha Turaga, Reshma Sultana Shaik","doi":"10.4103/aian.aian_793_25","DOIUrl":"https://doi.org/10.4103/aian.aian_793_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028237","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 : 2026-01-22DOI: 10.4103/aian.aian_1049_25
Singanamalla Bhanudeep, Bhargav Ryakala
{"title":"Reflex Bathing Epilepsy in a Boy with UPF3B-Related Disorder.","authors":"Singanamalla Bhanudeep, Bhargav Ryakala","doi":"10.4103/aian.aian_1049_25","DOIUrl":"https://doi.org/10.4103/aian.aian_1049_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028212","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 : 2026-01-22DOI: 10.4103/aian.aian_947_25
Shayan Sharifi, Alisina Mirzaei
{"title":"Correspondence: \"Long-Term Effects of Deep Brain Stimulation on Non-Motor Symptoms in Patients with Parkinson's Disease\".","authors":"Shayan Sharifi, Alisina Mirzaei","doi":"10.4103/aian.aian_947_25","DOIUrl":"https://doi.org/10.4103/aian.aian_947_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028278","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 : 2026-01-22DOI: 10.4103/aian.aian_989_25
Roopesh Jain, Archana Tiwari
{"title":"Vitamin D Deficiency: An Underrecognized Contributor to Neurological Morbidity in India.","authors":"Roopesh Jain, Archana Tiwari","doi":"10.4103/aian.aian_989_25","DOIUrl":"10.4103/aian.aian_989_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028255","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}
Background and objectives: Early post-stroke delirium (PSD) is difficult to diagnose and complicates recovery. We aimed to evaluate two validated delirium screening tools, focusing on patients with stroke-related higher-order cognitive deficits (HOCDs).
Methods: We prospectively analyzed the delirium features and compared the diagnostic accuracy of the Confusion Assessment Method for ICU (CAM-ICU) and the Intensive Care Delirium Screening Checklist (ICDSC) with Diagnostic and Statistical Manual -5 (DSM-5) criteria in 164 patients with acute ischemic stroke. Early PSD was defined as delirium occurring within 72 h of admission.
Results: Early PSD occurred in 32.3% patients, two-thirds of whom had HOCDs such as aphasia or neglect. Individual delirium features were frequent in nondelirious patients with HOCDs, inattention (Area under curve [AUC] .98, odds ratio [OR] 28.88), psychomotor changes (AUC.95, OR 10.60), and impaired arousal (AUC.95, OR 8.57) had maximum discriminating value on logistic regression analysis. When compared with DSM-5, CAM-ICU (sensitivity 81%, specificity 84%, AUC.97) had better accuracy than ICDSC (sensitivity 70%, specificity 86%, AUC.96); however, both were noninferior. In patients with HOCDs, both had markedly reduced specificities. Adding psychomotor changes to patients who were CAM-ICU positive (CAM-ICU Plus) improved its specificity. CAM-ICU Plus (sensitivity 79%, specificity 92%, AUC.98) had the best accuracy among all the tools.
Conclusions: Early PSD is common after ischemic stroke. Available screening tools have lower specificity in patients with post-stroke cognitive deficits. CAM-ICU performed better than ICDSC. CAM ICU Plus improves the specificity of CAM ICU, which needs to be confirmed by further multicenter studies. Stroke-specific delirium screening tools are required for improving outcomes.
背景与目的：早期脑卒中后谵妄（PSD）诊断困难且恢复复杂。我们的目的是评估两种有效的谵妄筛查工具，重点是卒中相关高阶认知缺陷（hocd）患者。方法：对164例急性缺血性脑卒中患者的谵妄特征进行前瞻性分析，并比较ICU神志不清评估方法（CAM-ICU）和重症监护谵妄筛查清单（ICDSC）与诊断与统计手册-5 （DSM-5）标准的诊断准确性。早期PSD定义为入院72小时内出现的谵妄。结果：32.3%的患者出现了早期PSD，其中三分之二的患者有失语或忽视等hocd。个体谵妄特征在非谵妄的hocd患者中很常见，注意力不集中（曲线下面积[AUC]）。98，比值比[OR] 28.88)、精神运动改变（AUC.95, OR 10.60）和觉醒受损（AUC.95, OR 8.57）在logistic回归分析中具有最大的判别价值。与DSM-5比较，CAM-ICU（灵敏度81%，特异度84%，AUC.97）的准确性优于ICDSC（灵敏度70%，特异度86%，AUC.96）；然而，两者都不逊色。在hocd患者中，两者的特异性都明显降低。在CAM-ICU阳性患者中加入精神运动改变（CAM-ICU Plus）可提高其特异性。CAM-ICU Plus（灵敏度79%，特异度92%，AUC.98）在所有工具中准确率最高。结论：缺血性脑卒中后早期PSD较为常见。现有的筛查工具对脑卒中后认知缺陷患者的特异性较低。CAM-ICU优于ICDSC。CAM ICU Plus提高了CAM ICU的特异性，这需要进一步的多中心研究来证实。需要卒中特异性谵妄筛查工具来改善结果。
{"title":"Diagnostic Accuracy of CAM-ICU and ICDSC for Detection of Early Delirium in Acute Ischemic Stroke: A Cross-sectional Study.","authors":"Deepthi Somarajan, Remya Prakash, Jayakumari Chellamma, Nikhila Sobha Shelley, Akhil Anand, Tom Geo James, Nirmal Mangalanandan, Alby Maria Mathews, Nicole Elsie Fletcher","doi":"10.4103/aian.aian_925_25","DOIUrl":"https://doi.org/10.4103/aian.aian_925_25","url":null,"abstract":"<p><strong>Background and objectives: </strong>Early post-stroke delirium (PSD) is difficult to diagnose and complicates recovery. We aimed to evaluate two validated delirium screening tools, focusing on patients with stroke-related higher-order cognitive deficits (HOCDs).</p><p><strong>Methods: </strong>We prospectively analyzed the delirium features and compared the diagnostic accuracy of the Confusion Assessment Method for ICU (CAM-ICU) and the Intensive Care Delirium Screening Checklist (ICDSC) with Diagnostic and Statistical Manual -5 (DSM-5) criteria in 164 patients with acute ischemic stroke. Early PSD was defined as delirium occurring within 72 h of admission.</p><p><strong>Results: </strong>Early PSD occurred in 32.3% patients, two-thirds of whom had HOCDs such as aphasia or neglect. Individual delirium features were frequent in nondelirious patients with HOCDs, inattention (Area under curve [AUC] .98, odds ratio [OR] 28.88), psychomotor changes (AUC.95, OR 10.60), and impaired arousal (AUC.95, OR 8.57) had maximum discriminating value on logistic regression analysis. When compared with DSM-5, CAM-ICU (sensitivity 81%, specificity 84%, AUC.97) had better accuracy than ICDSC (sensitivity 70%, specificity 86%, AUC.96); however, both were noninferior. In patients with HOCDs, both had markedly reduced specificities. Adding psychomotor changes to patients who were CAM-ICU positive (CAM-ICU Plus) improved its specificity. CAM-ICU Plus (sensitivity 79%, specificity 92%, AUC.98) had the best accuracy among all the tools.</p><p><strong>Conclusions: </strong>Early PSD is common after ischemic stroke. Available screening tools have lower specificity in patients with post-stroke cognitive deficits. CAM-ICU performed better than ICDSC. CAM ICU Plus improves the specificity of CAM ICU, which needs to be confirmed by further multicenter studies. Stroke-specific delirium screening tools are required for improving outcomes.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146008459","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":"Leptomeningeal Carcinomatosis as the Initial Presentation of Occult Colorectal Cancer: Diagnostic and Management Challenges.","authors":"Vishal Chandra Sharma, Akshata Huddar, Neeharika Doddi, Raghunandan Nadig, Gg Sharath Kumar, Chandana Nagaraj","doi":"10.4103/aian.aian_744_25","DOIUrl":"https://doi.org/10.4103/aian.aian_744_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145931951","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 : 2026-01-08DOI: 10.4103/aian.aian_718_25
YoungSeo Kim, HyunYoung Park
{"title":"Long-Standing Corticomedullary Hyperintensities in a Patient with Probable Neuronal Intranuclear Inclusion Disease.","authors":"YoungSeo Kim, HyunYoung Park","doi":"10.4103/aian.aian_718_25","DOIUrl":"https://doi.org/10.4103/aian.aian_718_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145931875","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: Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profiles and delayed diagnosis. Two patients with mitochondrial neurogastrointestinal encephalomyopathy (homozygous TYMP variants: c.454G>T, c.866A>C) exhibited cachexia, ptosis, neuropathy, and confluent white matter hyperintensities leukodystrophy. Two others with MPV17 (c.293C>T) presented with neuromyopathy and hepatosplenomegaly; one showed novel concentric ring lesions on magnetic resonance imaging (MRI). Despite severe white matter changes/leukodystrophy, cognition was preserved. Diagnoses were delayed due to atypical gastrointestinal or neuromuscular symptoms. This series highlights the diagnostic challenge of MDMD and underscores that it should be considered in adolescents or young adults with unexplained neuropathy, white matter hyperintensities/leukodystrophy, or cachexia, even without classic hepatic or encephalopathic features. Genetic testing is essential for diagnosis, as phenotypic variability often obscures underlying MDMD. Our findings underscore the need for increased awareness of this delayed-diagnosis presentation to enable timely intervention.
线粒体DNA维持缺陷（MDMD）是一种罕见的遗传性疾病，通常出现在婴儿期，但可以在以后表现为多器官累及。我们描述了四个MDMD病例（年龄19-25岁）具有不同的临床和遗传特征和延迟诊断。2例线粒体神经胃肠道脑肌病（纯合TYMP变异：C . 454g >T, C . 866a >C）患者表现为恶病质、上睑下垂、神经病变和汇合性白质高强度白质营养不良。另外2例MPV17 （c.293C>T）表现为神经肌病和肝脾肿大；1例在磁共振成像（MRI）上显示新的同心圆病变。尽管有严重的白质改变/脑白质营养不良，认知功能仍得以保留。由于不典型的胃肠道或神经肌肉症状而延误诊断。本系列报告强调了MDMD的诊断挑战，并强调在青少年或年轻人中，即使没有典型的肝脏或脑病特征，也应考虑患有不明原因的神经病变、白质高信号/白质营养不良或恶病质。基因检测对于诊断是必不可少的，因为表型变异常常掩盖潜在的MDMD。我们的研究结果强调需要提高对这种延迟诊断表现的认识，以便及时干预。
{"title":"Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.","authors":"Deepak Amalnath, Jayaram Saibaba, Vaibhav Wadwekar, Krishnan Nagarajan, Santhakumar Senthilvelan","doi":"10.4103/aian.aian_843_25","DOIUrl":"https://doi.org/10.4103/aian.aian_843_25","url":null,"abstract":"<p><strong>Abstract: </strong>Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profiles and delayed diagnosis. Two patients with mitochondrial neurogastrointestinal encephalomyopathy (homozygous TYMP variants: c.454G>T, c.866A>C) exhibited cachexia, ptosis, neuropathy, and confluent white matter hyperintensities leukodystrophy. Two others with MPV17 (c.293C>T) presented with neuromyopathy and hepatosplenomegaly; one showed novel concentric ring lesions on magnetic resonance imaging (MRI). Despite severe white matter changes/leukodystrophy, cognition was preserved. Diagnoses were delayed due to atypical gastrointestinal or neuromuscular symptoms. This series highlights the diagnostic challenge of MDMD and underscores that it should be considered in adolescents or young adults with unexplained neuropathy, white matter hyperintensities/leukodystrophy, or cachexia, even without classic hepatic or encephalopathic features. Genetic testing is essential for diagnosis, as phenotypic variability often obscures underlying MDMD. Our findings underscore the need for increased awareness of this delayed-diagnosis presentation to enable timely intervention.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145931930","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 : 2026-01-08DOI: 10.4103/aian.aian_813_25
Aralikatte O Saroja, Karkal R Naik
{"title":"Persistent Pathological Yawning due to Neuromyelitis Optica Spectrum Disorder.","authors":"Aralikatte O Saroja, Karkal R Naik","doi":"10.4103/aian.aian_813_25","DOIUrl":"https://doi.org/10.4103/aian.aian_813_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145931390","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":"Lip-Pursing Stereotypies as a Manifestation of Dravet Syndrome in Adulthood.","authors":"Shivam Mirg, Ranjot Kaur, Divyani Garg, Ayush Agarwal, Roopa Rajan, Achal K Srivastava","doi":"10.4103/aian.aian_653_25","DOIUrl":"https://doi.org/10.4103/aian.aian_653_25","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145817452","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}
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