Sniya Sudhakar
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View article: Paramagnetic Rim Lesions in Pediatric Multiple Sclerosis and Their Association With Brain Tissue Atrophy
Paramagnetic Rim Lesions in Pediatric Multiple Sclerosis and Their Association With Brain Tissue Atrophy Open
PRLs are common in pediatric MS and are linked to greater lesion burden and gray matter atrophy. These findings suggest that PRLs are promising imaging biomarkers of more severe brain tissue damage although their ability to predict future …
View article: A PROGNOSTIC HUMAN BRAIN NETWORK FOR DIFFUSE MIDLINE GLIOMA
A PROGNOSTIC HUMAN BRAIN NETWORK FOR DIFFUSE MIDLINE GLIOMA Open
AIMS Diffuse midline glioma (DMG) are near-universally lethal tumours of the paediatric central nervous system. In animal models, DMG form brain-wide, integrated networks through neuron-to-glioma synapses and glioma- to-glioma gap junction…
View article: Neuroimaging spectrum of GM1 gangliosidosis with description of novel imaging signs
Neuroimaging spectrum of GM1 gangliosidosis with description of novel imaging signs Open
PLIC = posterior limb of internal capsule; IHOMS = Internal hypertrophy of the occipitomastoid sutures; OR = optic radiation; GP = globus pallidus; GPi = globus pallidus internus; GPe = globus pallidus externus; MPS = mucopolysaccharidoses.
View article: Pediatric-Type Diffuse Low-Grade Gliomas with <i>MYB</i> Alterations: Neuroimaging of the Diffuse Astrocytomas, <i>MYB-</i> or <i>MYBL1</i> -Altered
Pediatric-Type Diffuse Low-Grade Gliomas with <i>MYB</i> Alterations: Neuroimaging of the Diffuse Astrocytomas, <i>MYB-</i> or <i>MYBL1</i> -Altered Open
Imaging features of DA-MYB in children are variable, and the fireworks sign was identified only in a subset of patients. It was usually present in patients with large hemispheric tumors but was also observed in brainstem lesions. Diffusion…
View article: Magnetic resonance imaging findings in <i>SCN1A</i> ‐related epilepsies and Dravet syndrome: A systematic review
Magnetic resonance imaging findings in <i>SCN1A</i> ‐related epilepsies and Dravet syndrome: A systematic review Open
We systematically reviewed the literature on neuroimaging findings in Dravet syndrome (DS) and SCN1A ‐related epilepsies to classify the reported structural abnormalities observed on magnetic resonance imaging (MRI). We searched PubMed and…
View article: Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q <sub>10</sub> Biosynthesis Disorders
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q <sub>10</sub> Biosynthesis Disorders Open
An early genome-wide diagnostic approach is needed for expeditious diagnosis of CoQ10 biosynthesis disorder because our study demonstrates that there are no pathognomonic blood, muscle, or imaging biomarkers of these diseases. Our findings…
View article: Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency
Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency Open
S‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive inborn error of metabolism affecting methylation by disrupting the methionine cycle. Its clinical spectrum spans from severe perinatal encephalomyopathy and liver failur…
View article: Advances in magnetic resonance imaging for the assessment of paediatric focal epilepsy: a narrative review
Advances in magnetic resonance imaging for the assessment of paediatric focal epilepsy: a narrative review Open
While advanced neuroimaging and AI offer significant improvements in the diagnostic process for epilepsy, some challenges remain. These include long acquisition times, the need for extensive data analysis, and a lack of large, standardized…
View article: Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development Open
Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to …
View article: Improved diagnostic accuracy for leptomeningeal dissemination in pediatric brain tumors using contrast-enhanced FLAIR imaging
Improved diagnostic accuracy for leptomeningeal dissemination in pediatric brain tumors using contrast-enhanced FLAIR imaging Open
Background Central nervous system cancers are a leading cause of childhood cancer-related mortality. Accurate staging and assessment of leptomeningeal spread, particularly in aggressive neoplasms such as embryonal tumors, is crucial for tr…
View article: Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology
Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology Open
Inherited disorders of neurotransmitter metabolism comprise an expanding heterogeneous spectrum of diseases associated with complex movement disorders, autonomic features, and global developmental delay (GDD).1, 2 Monoamine neurotransmitte…
View article: Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort
Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort Open
Our treatment cohort showed a significantly slower rate of brain parenchymal volume loss compared with a natural history cohort in several anatomic regions. Our results complement prior clinical data that found a positive response to ERT. …
View article: IMG-30. DIFFUSE MIDLINE GLIOMA MAP TO A COMMON FUNCTIONAL NETWORK ASSOCIATED WITH TUMOUR PROGRESSION AND OVERALL SURVIVAL
IMG-30. DIFFUSE MIDLINE GLIOMA MAP TO A COMMON FUNCTIONAL NETWORK ASSOCIATED WITH TUMOUR PROGRESSION AND OVERALL SURVIVAL Open
BACKGROUND Gliomas form bidirectional, functional synapses with otherwise healthy neurons: increasing neuronal excitability and driving tumour growth. The prognostic significance of this phenomenon does, however, remain unknown. METHODS Th…
View article: CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes Open
Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a compl…
View article: The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders Open
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least…
View article: International Consensus Statement on the Radiologic Evaluation of Dysraphic Malformations of the Spine and Spinal Cord
International Consensus Statement on the Radiologic Evaluation of Dysraphic Malformations of the Spine and Spinal Cord Open
Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for varying degrees of neurol…
View article: Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes Open
Cytoplasmic and nuclear iron-sulfur enzymes that are essential for genome maintenance and replication depend on the cytoplasmic iron-sulfur assembly (CIA) machinery for cluster acquisition. Here we report that patients with biallelic loss …
View article: Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis Open
Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding…
View article: Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions Open
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a lat…
View article: Intraoperative MRI Assessment of the Tissue Damage during Laser Ablation of Hypothalamic Hamartoma
Intraoperative MRI Assessment of the Tissue Damage during Laser Ablation of Hypothalamic Hamartoma Open
Laser ablation for treatment of hypothalamic hamartoma (HH) is a minimally invasive and effective technique used to destroy hamartomatous tissue and disconnect it from the functioning brain. Currently, the gold standard to evaluate the amo…
View article: Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic Variants
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic Variants Open
Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurologic syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spec…
View article: Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia Open
The human dopaminergic system is vital for a broad range of neurological processes, including the control of voluntary movement. Here we report a proband presenting with clinical features of dopamine deficiency: severe infantile parkinsoni…
View article: Neuroimaging Features of Biotinidase Deficiency
Neuroimaging Features of Biotinidase Deficiency Open
Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme carboxylase and related neurologic, dermatologic, and oc…
View article: Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder Open
Background MAPK-activated protein kinase 5 (MAPKAPK5) is an essential enzyme for diverse cellular processes. Dysregulation of the pathways regulated by MAPKAPK enzymes can lead to the development of variable diseases. Recently, homozygous …
View article: Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration
Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration Open
Our study highlights the key early MR imaging features of BPAN. Iron deposition in the globus pallidus and substantia nigra is not common in children younger than 4 years of age; clinicians should not be deterred from suspecting BPAN in th…
View article: Refining the Neuroimaging Definition of the Dandy-Walker Phenotype
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype Open
As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plex…
View article: <i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia Open
Background Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders. Objective T…