A5038226109- Infectious Encephalopathies and Encephalitis
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Neurological and metabolic disorders
- Long-Term Effects of COVID-19
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Autoimmune Neurological Disorders and Treatments
- Fetal and Pediatric Neurological Disorders
- Trace Elements in Health
- Hereditary Neurological Disorders
- Pharmacological Effects and Toxicity Studies
- Advanced MRI Techniques and Applications
- Radiation Dose and Imaging
- Herpesvirus Infections and Treatments
- Carbohydrate Chemistry and Synthesis
- Studies on Chitinases and Chitosanases
- Glycosylation and Glycoproteins Research
- Peripheral Neuropathies and Disorders
- Glycogen Storage Diseases and Myoclonus
- Cerebrovascular and genetic disorders
- Autoimmune and Inflammatory Disorders Research
- Spinal Dysraphism and Malformations
Jawaharlal Nehru Medical College
2009-2025
KLE University
2009-2021
Jawaharlal Nehru Medical College Hospital
2015-2018
Sarojini Naidu Medical College
2011
ABSTRACT Background SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia, paraparesis, or late‐onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported 10 families thus far. Methods for this study consisted clinical examination, neuroimaging studies (MRI), serum dosages, genetic analysis. Results We describe early disease manifestations (including...
Ring-enhancing cystic brain lesions are often associated with infectious diseases such as neurocysticercosis (NCC) or fungal infections. However, in some cases, these mimic high-grade neoplasms glioblastoma (GBM) metastatic tumors. This article presents two cases which patients were initially diagnosed based on imaging findings, but histopathological analysis confirmed malignant Through a detailed discussion of advanced techniques and diagnostic pitfalls, this study emphasizes the critical...
Neural tube defects are common congenital anomalies, typically presenting early due to visible swelling and/or neurological deficits. Rarely, cystic swellings neglected until adulthood, with only 14 cases of malignancy developing in an untreated meningomyelocele reported date. We describe the case details a 26-year-old Indian woman this rare complication. Magnetic resonance imaging revealed low-lying spinal cord dysraphism, herniation, and lesion. The biopsy confirmed well-differentiated...
Objective This study explores a range of congenital anomalies and anatomical variants the pancreas, pancreatic ductal system, biliary tree, emphasizing critical role Magnetic Resonance Cholangiopancreatography (MRCP) in their diagnosis. Methods The was conducted over six months involved use MRCP imaging to diagnose variations tree patients presenting with obstructive jaundice. Subjects Twenty jaundice participated this prospective study. Results identified several common anomalies: ...
Objective: To explore and categorize various Müllerian duct anomalies using magnetic resonance imaging (MRI) evaluate these findings within the frameworks of updated American Society for Reproductive Medicine (ASRM) system. Methods: A retrospective analysis pelvic MRI scans with between July 2023 December 2024. Subjects: This study reviewed medical records 19 female patients diagnosed congenital The patients’ ages ranged from 2 to 63 years, a mean age 22 years. Results: wide spectrum was...
Neuro-Behcet's disease (NBD) is a rare and challenging manifestation of Behcet's (BD) that involves the central nervous system (CNS), affecting less than 10% BD patients. The clinical spectrum includes neurological deficits such as motor dysfunction, memory impairment, personality changes, often presenting subacutely. Here, we report case 19-year-old male with recurrent aphthous ulcers, headache, irritability, left-sided limb weakness. MRI findings revealed hyperintensities in left corona...
The multifactorial etiology of acute respiratory failure (ARF) often complicates diagnosis at an early stage clinical presentation. Despite being a common life-threatening disorder, accurate and timely is hindered by bad quality bedside radiographs nonavailability immediate computed tomography imaging. This study was attempt to evaluate the diagnostic accuracy ultrasound in diagnosing ARF.This hospital-based cross-sectional investigated underlying etiological factor 130 patients presenting...
Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to presentations, metabolic profile, findings outcome patients with GA-I.The present retrospective study.Retrospective review charts carried out March 2008 April 2010. The clinical, laboratory were extracted predesigned proforma data analyzed.Eleven cases found...
The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation lipopigment in lysosomes neurons and other cell types. There are very few published studies on NCL from India, especially children.A retrospective study confirmed patients diagnosed over period 10 years January 2019 to December 2019.Fifty children had definitive diagnosis based enzymatic or genetic testing using next-generation sequencing. Around 15 were...
To study the clinico-radiological profile of children with acute leukoencephalopathy restricted diffusion.A retrospective chart review diffusion was done from July 2015 to 2018. The clinical details, neuroimaging findings, sequelae, and final outcome on modified Rankin Score were analyzed.Sixteen a mean age 4.4 years diagnosed diffusion. All, except one, had fever, seizure, altered sensorium. median duration hospital stay 3 weeks. Only one out 16, biphasic picture that is characteristic...
Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation lipopigment in lysosomes neurons and other cell types. This study retrospective review charts patients with diagnosis infantile late-infantile neuronal seen between January 2009 December 2011. Of the 16 patients, 5 had type 11 lipofuscinosis. Diagnosis was confirmed appropriate enzyme assay. Clinical presentation quite varied. Common presenting features included refractory...
Childhood Central Nervous System (CNS) inflammatory demyelinating disorders (CIDD) are being diagnosed more commonly now. There is ambiguity in the use of different terms relation to CIDD. Recently, consensus definitions have been proposed so that there uniformity studies across world. The prevalence these and spectrum varies from place place. This study was undertaken clinico-radiological profile outcome children with CIDD using recent definition.Prospective descriptive study.All patients...