Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.

Purpose: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)-associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, and neuroradiological evidence that biallelic variants in ribonuclease inhibitor (RNH1) confer susceptibility to a distinctive ANE subtype.

Methods: This study aimed to evaluate clinical data, neuroradiological studies, genomic sequencing, and protein immunoblotting results in 8 children from 4 families who experienced acute febrile encephalopathy.

Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series.

Neonatal hypoxic-ischemic encephalopathy is a clinical phenomenon that often results from perinatal asphyxia. To mitigate secondary neurologic injury, prompt initial assessment and diagnosis is needed to identify patients eligible for therapeutic hypothermia. However, occasionally neonates present with a clinical picture of hypoxic-ischemic encephalopathy without significant risk factors for perinatal asphyxia.

Pearls & Oy-sters: Cerebral Abscess Secondary to Pulmonary Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition that is linked to a myriad of neurologic complications arising from vascular malformations of the brain, spinal cord, and lungs. Our case describes a previously healthy 3-year-old male who presented to hospital with fever of unknown origin and was found to have a brain abscess stemming from a pulmonary arteriovenous malformation (PAVM). This etiology was identified after a period of diagnostic delay; the medical team was suspicious for a proximal embolic source due to the presence of multiple tiny infarcts seen on MRI of the brain, but transthoracic echocardiogram and head and neck angiogram were unremarkable.

Neuroinflammation and Precision Medicine in Pediatric Neurocritical Care: Multi-Modal Monitoring of Immunometabolic Dysfunction.

The understanding of molecular biology in neurocritical care (NCC) is expanding rapidly and recognizing the important contribution of neuroinflammation, specifically changes in immunometabolism, towards pathological disease processes encountered across all illnesses in the NCC. Additionally, the importance of individualized inflammatory responses has been emphasized, acknowledging that not all individuals have the same mechanisms contributing towards their presentation. By understanding cellular processes that drive disease, we can make better personalized therapy decisions to improve patient outcomes.

Antenatal diagnosis of fetal intraventricular hemorrhage: systematic review and meta-analysis.

Aim: To determine how the severity of antenatally diagnosed germinal matrix-intraventricular hemorrhage (GMH-IVH) relates to morbidity and mortality, and to explore potential risk factors.

Method: We conducted a systematic review and individual patient data meta-analysis of antenatally diagnosed fetal GMH-IVH. The primary outcomes were mortality and morbidity.

Isolated convergence-retraction nystagmus secondary to intralesional haemorrhage of a pineal cyst: an easily missed neurological finding with potentially life-threatening consequences.

This case report describes a patient who presented to the emergency department with intermittent visual disturbance and was found to have convergence-retraction nystagmus. This occurred in the setting of supratherapeutic anticoagulation on warfarin for an aortic dissection graft repair. Urgent imaging demonstrated haemorrhagic transformation of a previously identified incidental pineal cyst.

Recent seizure activity alters motor organization in frontal lobe epilepsy as revealed by task-based fMRI.

Purpose: Patients with frontal lobe epilepsy (FLE) commonly demonstrate motor impairments, suggesting that frontal lobe seizures affect motor function. However, the underlying mechanisms of these deficits are not known, nor has any study systematically examined motor organization in these patients. We therefore examined cortical motor organization in a group of adult patients with FLE, using task-based fMRI.

Frontal lobe epilepsy alters functional connections within the brain's motor network: a resting-state fMRI study.

Patients with frontal lobe epilepsy (FLE) often experience motor deficits, yet little is known of the impact of FLE on the activity of motor networks in the brain. Resting-state functional magnetic resonance imaging (rs-fMRI) has previously demonstrated an association between cognitive deficits in temporal lobe epilepsy patients and disruption of activity within pertinent brain networks. Hence, in the present study, rs-fMRI was used to determine whether FLE is associated with motor network disruption.