A5061610791- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Glioma Diagnosis and Treatment
- Congenital Diaphragmatic Hernia Studies
- Child Abuse and Related Trauma
- Neonatal and fetal brain pathology
- Meningioma and schwannoma management
- Vascular Malformations Diagnosis and Treatment
- Hearing Loss and Rehabilitation
- Advanced Neuroimaging Techniques and Applications
- Radiomics and Machine Learning in Medical Imaging
- RNA regulation and disease
- Pituitary Gland Disorders and Treatments
- Infectious Encephalopathies and Encephalitis
- Lysosomal Storage Disorders Research
- Autoimmune Neurological Disorders and Treatments
- Moyamoya disease diagnosis and treatment
- Tumors and Oncological Cases
- Pleural and Pulmonary Diseases
- Hedgehog Signaling Pathway Studies
- Spinal Dysraphism and Malformations
- Genetic and rare skin diseases.
- Neuroblastoma Research and Treatments
- Neurological diseases and metabolism
- Genomics and Rare Diseases
National Hospital for Neurology and Neurosurgery
2025
Great Ormond Street Hospital
2022-2024
University College London
2022-2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2023-2024
Hospital for Sick Children
2020-2024
University of Toronto
2020-2023
SickKids Foundation
2020-2022
All India Institute of Medical Sciences
2016-2020
Monash Health
2019-2020
Christian Medical College & Hospital
2018
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem arising from pathogenic variants in anchor pathway (GPI-AP) genes. Despite associating 24 at least 31 GPI-AP genes with human neurogenetic disease, prior reports limited to single without consideration the as whole and natural history data. In this multinational retrospective observational study, we systematically analyse molecular spectrum, phenotypic characteristics 83 individuals 75 unique...
Antibodies to myelin oligodendrocyte glycoprotein (MOG-Ab) have recently been reported in patients with encephalitis who do not fulfill criteria for acute disseminated encephalomyelitis (ADEM). We evaluated a cohort of these children and compared them ADEM.
Abstract Background: Craniopharyngioma (CP) account for 80% of childhood hypothalamo-pituitary tumors and, though benign, their proximity to the visual pathways, hypothalamus, and pituitary incurs significant long-term neurologic endocrine morbidity. Informed surgical decision-making has potential reduce morbidity improve outcomes. There remains a high degree variability in how these lesions continue be managed. Methods: This multicenter retrospective observational study aimed compare...
<h3>BACKGROUND AND PURPOSE:</h3> Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterized by the accumulation autofluorescent lipopigments in neuronal cells. As result storage material brain and retina, clinical manifestations include speech delay, cognitive dysfunction, motor regression, epilepsy, vision loss, early death. At present, 14 different lipofuscinosis (CLN) genes known. Recently, FDA approved use recombinant human proenzyme tripeptidyl-peptidase 1...
<h3>SUMMARY:</h3> Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the <i>BTD</i> gene. Resultant of free biotin leads to impaired activity enzyme carboxylase and related neurologic, dermatologic, ocular symptoms. Many these are reversible on treatment, but early recognition commencement supplementation critical. This practice especially important countries where routine neonatal screening for biotinidase not performed. In this report comprising 14...
In view of the high burden latency tuberculosis (TB) in India, tackling latent TB right way is a menace. All TB’s infection (LTBI) are treated countries having low such as United States. However, this approach cannot be implemented like India until concrete evidence or consensus by experts on subject made. There very specific risk groups where these patients to far current evidence-based medicine concerned. Hence, need develop document was felt, through which treatment LTBI becomes...
Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders. Recently, enzyme replacement therapy (ERT) was approved for neuronal lipofuscinosis type 2 (CLN2), subtype lipofuscinoses. The aim this study to quantify brain volume loss in CLN2 disease patients on ERT comparison with natural history cohort using MRI. Nineteen (14 female, 5 male) at 1 UK center were studied serial 3D T1-weighted MRI (follow-up time, 1-9 years). Brain segmentation performed FreeSurfer. Volume...
Sensorineural hearing loss results from abnormalities that affect the hair cells of membranous labyrinth, inner ear malformations, and conditions affecting auditory pathway cochlear nerve to processing centers brain. Cochlear implantation is increasingly being performed for rehabilitation owing expanding indications a growing number children adults with sensorineural loss. An adequate understanding temporal bone anatomy diseases paramount alerting operating surgeon about variants imaging...
A 45-year-old woman presented to the emergency department, with epigastric pain and multiple episodes of vomiting. History revealed significant weight loss, similar vomiting in past, which had been self-limiting. On examination, patient fullness tenderness. Contrast-enhanced CT abdomen a grossly dilated stomach duodenum, an abrupt narrowing at third part superior mesenteric artery crossing anterior transition point (figures 1 2). The aortomesenteric angle (AMA) distance (AMD) were 14°...
A 10-month-old infant was brought to the hospital in status epilepticus, preceded by a 2-day history of fever and loose stools. Brain MRI revealed swelling T2 hyperintensity involving thalami, white matter, dorsal brainstem (figure 1). The thalamic lesions showed trilaminar appearance on diffusion-weighted imaging (DWI) apparent diffusion coefficient (ADC) images, with hemorrhagic foci susceptibility-weighted (figures 1 2).
A 9-year-old boy presented with a slowly progressive spastic ataxic syndrome. Sensorimotor polyneuropathy was detected on nerve conduction studies. MRI (figure) highly suggestive of autosomal recessive ataxia Charlevoix-Saguenay (ARSACS).