Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.

Background: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.

Methods: The study was conducted using a dedicated "EPI-MCD MR protocol" with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI.

Advances in magnetic resonance imaging for the assessment of paediatric focal epilepsy: a narrative review.

Background And Objective: Epilepsy affects approximately 50 million people worldwide, with 30-40% of patients not responding to medication, necessitating alternative therapies such as surgical intervention. However, the accurate localization of epileptogenic lesions, particularly in pediatric magnetic resonance imaging (MRI)-negative drug-resistant epilepsy, remains a challenge. This paper reviews advanced neuroimaging techniques aimed at improving the detection of such lesions to enhance surgical outcomes.

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.

Mild/juvenile Canavan disease (M/JCD) is less frequently reported in the literature and little is known about its pathogenetic mechanisms. We report a comprehensive investigation into the pathogenetic mechanism of a novel NM_000049.4(ASPA):c.

Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders-a practical introductory guide.

Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage.

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybutyric acid and the identification of biallelic pathogenic variants in aldehyde dehydrogenase 5 family, member A 1 () gene.

An Unusual Cause of Chronic Headache in an Adolescent Boy: A Case Report.

Spontaneous intracranial hypotension (SIH) is an under-diagnosed cause of headache in children and adolescents. SIH results from cerebrospinal fluid (CSF) leak due to breach in the dura mater and the etiology for dural breach is often diverse. We report an adolescent boy who presented with chronic episodic headache that later progressed to daily headache.

Molecular correlates of cerebellar mutism syndrome in medulloblastoma.

Background: Cerebellar mutism syndrome (CMS) is a common complication following resection of posterior fossa tumors, most commonly after surgery for medulloblastoma. Medulloblastoma subgroups have historically been treated as a single entity when assessing CMS risk; however, recent studies highlighting their clinical heterogeneity suggest the need for subgroup-specific analysis. Here, we examine a large international multicenter cohort of molecularly characterized medulloblastoma patients to assess predictors of CMS.

Revisiting magnetic resonance imaging pattern of Krabbe disease - Lessons from an Indian cohort.

Context: Krabbe disease shows considerable heterogeneity in clinical features and disease progression. Imaging phenotypes are equally heterogeneous but show distinct age-based patterns. It is important for radiologists to be familiar with the imaging spectrum to substantially contribute toward early diagnosis, prognostication, and therapeutic decisions.

Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort.

Context: Neurometabolic disorders form an important group of potentially treatable diseases. It is important to recognize the clinical phenotype and characteristic imaging patterns to make an early diagnosis and initiate appropriate treatment. L-2-hydroxy glutaric aciduria (L2HGA) is a rare organic aciduria with a consistent and highly characteristic imaging pattern, which clinches the diagnosis in most cases.

Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India.

Background: Opsoclonus myoclonus syndrome (OMS) is a neuroinflammatory disorder. Indian literature on its clinical profile and outcome is sparse.

Objectives: The objective of this study is to describe the clinical profile and analyze outcomes and prognostic predictors in a cohort of children with OMS.

Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.

Advances in genetics has revolutionised the way we understand, diagnose and manage neurological disorders. Notwithstanding the fact that genetic confirmation has already become standard of care in routine clinical practice, radiological and clinical phenotyping has not diminished in value; in fact it has found an enhanced role in guiding and interpreting genetic test results. Inherited neurometabolic disorders are a prominent group of disorders which are seen commonly in clinical practice and many are potentially treatable.

Reliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children.

Objective: We studied the accuracy of the radiologic diagnosis of lateral ventricular masses in children (<20 years of age).

Methods: In this retrospective study, data were collected from children with lateral ventricular masses managed in our unit between 2001 and 2016. There were 43 patients (26 boys and 17 girls; mean age, 12.

Imaging of Childhood Inflammatory Brain Diseases.

Brain has been considered as an immune-privileged site for centuries owing to the presence of blood-brain barrier, absent lymphatic drainage, and antigen-presenting cells. However, the present prevailing concept is of immune surveillance where brain is continuously surveyed by immune cells. However, the presence of immune cells in central nervous system (CNS) brings the risk of inflammation and autoimmunity involving both T and B cell mediated pathways.

Menkes disease and response to copper histidine: An Indian case series.

Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in gene. Depending on the residual activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers.

A tropical menace of co-infection of Japanese encephalitis and neurocysticercosis in two children.

Japanese encephalitis (JE) is a mosquito borne encephalitis caused by Flavivirus. Neurocysticercosis (NCC) is a parasitic disease of the central nervous system caused by Taenia solium. In this report, we describe the clinical profile, imaging findings, and outcome of two children with JE and coexisting NCC.

Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series.

Moya Moya Disease (MMD) is characterised by idiopathic vasculopathy affecting the terminal internal carotid arteries resulting in the formation of extensive collaterals at the base of the brain, leptomeninges and parenchymal regions with resultant infarcts and bleeds. Four children presented with clinico-radiological features suggestive of Moyamoya disease/syndrome. This includes global developmental delay, recurrent seizures, transient ischaemic attacks and impaired vision.

Imaging in Pediatric Demyelinating and Inflammatory Diseases of Brain- Part 2.

Imaging plays an important role in diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of brain and forms an integral part of the diagnostic criteria. This article reviews the spectrum of aquaporinopathies with an in-depth discussion on present criteria and differentiation from other demyelinating diseases with clinical vignettes for illustration; the latter part of article deals with the spectrum of CNS vasculitis.

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population.

Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis. We report two Indian families from different regions of India who underwent molecular testing of CYP27A1.

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein.