Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.

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.

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders.

Mitochondrial diseases, a diverse and intricate group of disorders, result from both nuclear DNA and mitochondrial DNA malfunctions, leading to a decrease in cellular energy (ATP) production. The increasing understanding of molecular, biochemical, and genetic irregularities associated with mitochondrial dysfunction has led to a wider recognition of varying mitochondrial disease phenotypes. This broadening landscape has led to a diverse array of neuroimaging findings, posing a challenge to radiologists in identifying the extensive range of possible patterns.

Distinguishing multicystic from focal encephalomalacia on delayed MRI in children with term hypoxic ischemic injury.

Background And Purpose: To define cystic patterns resulting from term hypoxic ischemic injury (HII) on delayed Magnetic Resonance Imaging (MRI) and determine associated HII patterns and lesions that reflect the severity of injury, from a database of African children with cerebral palsy.

Methods: Retrospective review of 1175 children with cerebral palsy due to term HII diagnosed on late MRI, identifying those with cystic changes. These were classified as multicystic or (multi-) focal-cystic, and were evaluated for associated injuries-thalami, basal ganglia, hippocampi, cerebellum, and presence of ulegyria.

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously associated with neurologic disease.

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene Cause a Novel Pediatric Neuroferritinopathy.

Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by and , respectively. Heterozygous variants in cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in have not been previously associated with neurologic disease.

Acquired hump of the corpus callosum: a rare morphologic complication after CSF shunting.

Purpose: To present the longitudinal MR imaging of 4 children with an acquired corpus callosum hump, in order to demonstrate graphically that this represents a dysmorphology caused through a constellation of pre-existing pathology, timing, and complications of treatment.

Materials And Methods: Four cases with a corpus callosum hump were evaluated for common findings in the clinical history and on MRI scans. Those patients with available follow-up imaging were specifically evaluated for the presence of the hump on initial neonatal imaging and for evidence of development and progression of the deformity over time.

Magnetic resonance imaging protocols in pediatric stroke.

Neuroimaging protocols play an important role in the timely evaluation and treatment of pediatric stroke and its mimics. MRI protocols for stroke in the pediatric population should be guided by the clinical scenario and neurologic examination, with consideration of age, suspected infarct type and underlying risk factors. Acute stroke diagnosis and causes in pediatric age groups can differ significantly from those in adult populations, and delay in stroke diagnosis among children is a common problem.

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.

Purpose: There is limited data concerning neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. Our aim was to study the natural history of pediatric FCCM, with an emphasis on symptomatic hemorrhagic events and associated clinical and imaging risk factors.

Methods: We retrospectively reviewed all children diagnosed with FCCM in four tertiary pediatric hospitals between January 2010 and March 2022.

Spinal involvement in pediatric familial cavernous malformation syndrome.

Purpose: The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM.

Methods: All patients with a pediatric diagnosis of FCCM evaluated at three tertiary pediatric hospitals between January 2010 and August 2021 with [Formula: see text] 1 whole spine MR available were included. Brain and spine MR studies were retrospectively evaluated, and clinical and genetic data collected.

Neuroimaging of paediatric pineal, sellar and suprasellar tumours: a guide to differential diagnosis.

Introduction: Pineal, sellar and suprasellar tumours in children comprise a wide range of diseases with different biological behaviours and clinical management. Neuroimaging plays a critical role in the diagnosis, treatment planning and follow up of these patients, but imaging interpretation can prove challenging due to the significant overlap in radiological features.

Materials And Method: A review of the literature was performed by undertaking a search of the MEDLINE and EMBASE databases for appropriate MeSH terminology.

Arteriopathy in pediatric stroke: an underestimated clinical entity.

Background: Pediatric arterial ischemic stroke (AIS), which was thought to be a rare disorder, is being increasingly recognized as an important cause of neurological morbidity, thanks to new advances in neuroimaging.

Objective: The aim of this study was to review the main etiologies of stroke due to arteriopathy in children.

Methods: Using a series of cases from our institution, we addressed its epidemiological aspects, physiopathology, imaging findings from CT, MR angiography, MR conventional sequences and MR DWI, and nuclear medicine findings.

Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.

Evaluation of ataxia in children is challenging in clinical practice. This is particularly true for highly heterogeneous conditions such as primary mitochondrial disorders (PMD). This study aims to explore cerebellar and brain abnormalities identified on MRI as potential predictors of ataxia in patients with PMD and, likewise, to determine the effect of the patient's genetic profile on these predictors as well as determination of the temporal relationship of clinical ataxia with MRI findings.

Imaging of brain tumors in children: the basics-a narrative review.

Primary pediatric brain tumors comprise a broad group of neoplasm subtypes that can be categorized based on their histological and molecular features according to the 2016 World Health Organization (WHO) classification of central nervous system (CNS) tumors. The majority of the pediatric brain tumors demonstrate a singular preference for this age group and have a unique molecular profile. The separation of certain tumor entities, including different types of embryonal tumors, low-grade gliomas, and high-grade gliomas, may have a significant impact by guiding appropriate treatment for these children and potentially changing their outcomes.

Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings.

Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system. Neuroimaging findings of PMDs are variable, ranging from unremarkable and nonspecific to florid and highly suggestive. An overview of PMDs, including a synopsis of the basic genetic concepts, main clinical symptoms, and neuropathologic features, is presented.

Understanding brain resilience in superagers: a systematic review.

Purpose: Superagers are older adults presenting excellent memory performance that may reflect resilience to the conventional pathways of aging. Our contribution aims to shape the evidence body of the known distinctive biomarkers of superagers and their connections with the Brain and Cognitive Reserve and Brain Maintenance concepts.

Methods: We performed a systematic literature search in PubMed and ScienceDirect with no limit on publication date for studies that evaluated potential biomarkers in superagers classified by validated neuropsychological tests.

Intracranial calcifications in childhood: Part 1.

This article is the first of a two-part series on intracranial calcification in childhood. Intracranial calcification can be either physiological or pathological. Physiological intracranial calcification is not an expected neuroimaging finding in the neonatal or infantile period but occurs, as children grow older, in the pineal gland, habenula, choroid plexus and occasionally the dura mater.

Intracranial calcifications in childhood: Part 2.

This article is the second of a two-part series on intracranial calcification in childhood. In Part 1, the authors discussed the main differences between physiological and pathological intracranial calcification. They also outlined histological intracranial calcification characteristics and how these can be detected across different neuroimaging modalities.