Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.

We describe a set of monozygotic twins with Glutamate Ionotropic Receptor N-methyl-D-aspartate Type Subunit 2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the gene (c.2453T > C, p.Met818Thr).

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

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.

Evaluation of epilepsy lesion visualisation enhancement in low-field MRI using image quality transfer: a preliminary investigation of clinical potential for applications in developing countries.

Purpose: Low-field (LF) MRI scanners are common in many Low- and middle-Income countries, but they provide images with worse spatial resolution and contrast than high-field (HF) scanners. Image Quality Transfer (IQT) is a machine learning framework to enhance images based on high-quality references that has recently adapted to LF MRI. In this study we aim to assess if it can improve lesion visualisation compared to LF MRI scans in children with epilepsy.

Cortically Based Brain Tumors in Children: A Decision-Tree Approach in the Radiology Reading Room.

Cortically based brain tumors in children constitute a unique set of tumors with variably aggressive biologic behavior. Because radiologists play an integral role on the multidisciplinary medical team, a clinically useful and easy-to-follow flow chart for the differential diagnoses of these complex brain tumors is essential. This proposed algorithm tree provides the latest insights into the typical imaging characteristics and epidemiologic data that differentiate the tumor entities, taking into perspective the 2021 World Health Organization's classification and highlighting classic as well as newly identified pathologic subtypes by using current molecular understanding.

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Background And Purpose: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome.

Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort.

Background And Purpose: Neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders. Recently, enzyme replacement therapy (ERT) was approved for neuronal ceroid lipofuscinosis type 2 (CLN2), a subtype of neuronal ceroid lipofuscinoses. The aim of this study was to quantify brain volume loss in CLN2 disease in patients on ERT in comparison with a natural history cohort using MRI.

Isolated cerebellar stroke in a paediatric patient with typical haemolytic uraemic syndrome: a case report and literature review.

Haemolytic Uraemic Syndrome (HUS) is a rare medical condition characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury. Neurological complications are documented but rarely involve the cerebellum. We present a unique case of a 23-month-old male with HUS triggered by Escherichia coli-O157 (E.

The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

Introduction: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients.

Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

Purpose: Incomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome.

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

Objective: Establishing the cause of hearing loss (HL) is important and rewarding, though not without its challenges. While our ability to identify the etiology for HL has improved with advances in scientific knowledge, a significant proportion of cases remain of unknown etiology. Recent protocol changes within the NHS Genomic Medicine Service support the utilization of the HL gene panel test, rather than individual gene tests.

Association of the Achondroplasia Foramen Magnum Score and intraoperative neuromonitoring.

Introduction: Foramen magnum stenosis in achondroplasia carries a risk of sudden death. A proportion of these patients benefit from foramen magnum decompression (FMD). The Achondroplasia Foramen Magnum Score (AFMS) was developed to stratify those most at risk.

Pediatric Congenital Anterior Skull Base Encephaloceles and Surgical Management: A Comparative Review of 22 Patients Treated Transnasally, Transcranially, or Combined Approach With a Review of the Literature.

Background And Objectives: Anterior basal encephaloceles are considered a rare entity and are often associated with midline cerebral abnormalities. Those with a large skull base defect and herniation of brain parenchyma in the neonate or young infant present unique challenges for surgical management.

Methods: We analyzed the neurosurgical administrative and operative databases between 1986 and 2022 to determine clinical presentation, operative approach, and outcome of basal encephaloceles.

Characterizing Frontal Lobe Seizure Semiology in Children.

Objective: The objective was to analyze seizure semiology in pediatric frontal lobe epilepsy patients, considering age, to localize the seizure onset zone for surgical resection in focal epilepsy.

Methods: Fifty patients were identified retrospectively, who achieved seizure freedom after frontal lobe resective surgery at Great Ormond Street Hospital. Video-electroencephalography recordings of preoperative ictal seizure semiology were analyzed, stratifying the data based on resection region (mesial or lateral frontal lobe) and age at surgery (≤4 vs >4).

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10-year period. Exome sequencing was used for genetic testing.

Os odontoideum and craniovertebral junction instability secondary to dystonia: case series and review of the literature.

Introduction: Os odontoideum refers to a rounded ossicle detached from a hypoplastic odontoid process at the body of the axis. The aetiology has been debated and believed to be either congenital or acquired (resulting from trauma). Os odontoideum results in incompetence of the transverse ligament and thus predisposes to atlantoaxial instability and spinal cord injury.

Magnetic resonance imaging findings in Kenyans and South Africans with active convulsive epilepsy: An observational study.

Objective: Focal epilepsy is common in low- and middle-income countries. The frequency and nature of possible underlying structural brain abnormalities have, however, not been fully assessed.

Methods: We evaluated the possible structural causes of epilepsy in 331 people with epilepsy (240 from Kenya and 91 from South Africa) identified from community surveys of active convulsive epilepsy.