Pediatrics neurology

BACKGROUND AND OBJECTIVES: Perinatal arterial ischemic stroke (PAIS) is a focal vascular brain injury presumed to occur between the fetal period and the first 28 days of life. It is the leading cause of hemiparetic cerebral palsy. Multiple maternal, intrapartum, delivery, and fetal factors have been associated with PAIS, but studies are limited by modest sample sizes and complex interactions between factors. Machine learning approaches use large and complex data sets to enable unbiased identification of clinical predictors but have not yet been applied to PAIS...

Cerebrospinal fluid opening pressure values are associated with various neurologic diseases; however, numerous factors can modify this measurement. This study aims to describe factors related to modifications in opening pressure measurements in pediatric patients. Methods: A retrospective analysis of lumbar punctures in pediatric patients conducted by the neuropediatrics group with institutional standardization. Bivariate and linear regression analyses were performed to determine the association between opening pressure and variables included in the study...

PURPOSE: Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain tumor. Radiation therapy (RT) is the standard treatment, with reirradiation considered in case of progression. However, the prognostic factors for reirradiation are not well understood. This study aims to investigate the outcomes of DIPG patients undergoing reirradiation and identify clinical and radiomic prognostic factors. METHODS: We conducted a retrospective analysis of patients with DIPG who underwent reirradiation at our institution between January 2016 and December 2023...

BACKGROUND: Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) is caused by UNC13D variants. The clinical manifestations of FHL3 are highly diverse and complex. Some patients exhibit atypical or incomplete phenotypes, making accurate diagnosis difficult. Our study aimed to broaden the understanding of the atypical FHL3 clinical spectrum. METHODS: In our study, we analyzed in detail the clinical features of four Chinese patients with UNC13D variants. Additionally, we conducted a comprehensive review of the existing literature on previously reported atypical manifestations and summarized the findings...

OBJECTIVE: Hyperoxia has been suggested as a mechanism for secondary injury following adult traumatic brain injury (TBI), but its effects have not been well described in pediatric patients. METHODS: Pediatric (≤18yo) TBI patients were identified in a prospective institutional registry from October 2008 to April 2022. The first, highest, and the Area Under the Curve (AUC) PaO2 in the first 24 hours were collected and calculated for each patient from arterial blood gas reports after admission to the ICU...

IMPORTANCE: Studies of brain imaging and movements during REM sleep indicate basal ganglia involvement in pediatric acute-onset neuropsychiatric syndrome (PANS). Characterizing neurological findings commonly present in patients with PANS could improve diagnostic accuracy. OBJECTIVE: To determine the prevalence of neurological soft signs which may reflect basal ganglia dysfunction (NSS-BG) in youth presenting with PANS and whether clinical characteristics of PANS correlate with NSS-BG...

OBJECTIVE: To assess whether computational electroencephalogram (EEG) measures during the first day of life correlate to clinical outcomes in infants with perinatal asphyxia with or without hypoxic-ischemic encephalopathy (HIE). METHODS: We analyzed four-channel EEG monitoring data from 91 newborn infants after perinatal asphyxia. Altogether 42 automatically computed amplitude- and synchrony-related EEG features were extracted as 2-hourly average at very early (6 h) and early (24 h) postnatal age; they were correlated to the severity of HIE in all infants, and to four clinical outcomes available in a subcohort of 40 newborns: time to full oral feeding (nasogastric tube NGT), neonatal brain MRI, Hammersmith Infant Neurological Examination (HINE) at three months, and Griffiths Scales at two years...

Diffuse midline glioma (DMG), including tumors diagnosed in the brainstem (diffuse intrinsic pontine glioma - DIPG), is the primary cause of brain tumor-related death in pediatric patients. DIPG is characterized by a median survival of <12 months from diagnosis, harboring the worst 5-year survival rate of any cancer. Corticosteroids and radiation are the mainstay of therapy; however, they only provide transient relief from the devastating neurological symptoms. Numerous therapies have been investigated for DIPG, but the majority have been unsuccessful in demonstrating a survival benefit beyond radiation alone...

BACKGROUND: Nonspecific clinical manifestations and unclear radiological features may delay treatment initiation in pediatric patients with Herpes simplex encephalitis (HSE). The aim of this study is to analyze the clinical and radiological features of the disease. METHODS: Clinical, laboratory, and magnetic resonance imaging (MRI) data were obtained retrospectively from a group of 37 hospitalized pediatric patients older than two months and with a polymerase chain reaction-confirmed HSE diagnosis...

PURPOSE: The aim of this study was to investigate the trajectory of parent-rated post-concussive symptoms (PCS), attentional performance and participation within 6 months in children after mild traumatic brain injury (mTBI). METHODS: For this prospective longitudinal study, we included data on 64 children after mTBI and 57 healthy control children (age 8-16 years). Parents rated PCS using the Post-Concussion Symptom Inventory (PCSI) immediately (T0), 1 week (T1), and 3-6 months after injury (T2)...

OBJECTIVE: To compare cases of dysraphism with ventral tethering of cord with those with dorsal tethering and to find out any differences in the outcome of surgery in them. METHODS: We collected the data of 188 consecutively operated tethered cord patients at our institute in the past 7 years and divided them into ventral tethering and dorsal tethering groups. Those that we felt had both dorsal and ventral tethering were excluded. Their preoperative clinical, radiological, and baseline neurophysiological parameters as well as postoperative clinical and radiological parameters were analyzed in a retrospective study...

BACKGROUND AND OBJECTIVES: Children with congenital heart diseases (CHDs) have an increased risk of developing neurologic deficits, even in the absence of apparent brain pathology. The aim of this work was to compare quantitative macro- and microstructural properties of subcortical gray matter structures of pediatric CHD patients with normal appearing brain magnetic resonance imaging to healthy controls. METHODS: We retrospectively reviewed children with coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) admitted to our hospital...

BACKGROUND: The management of the central nervous system (CNS) tumors in the pediatric population is crucial in neurosurgical practice. The World Health Organization (WHO) has evolved its classification of CNS tumors from the 19th century to the 5th edition, published in 2021, incorporating molecular advancements. This transition from morphology to molecular characterization is ongoing. METHODS: This manuscript analyzes the modifications introduced in the 5th edition of WHO's CNS tumor classification, particularly focusing on pediatric tumor families...

BACKGROUND: Spinal extradural arachnoid cysts comprise <1% of all spinal lesions and are rare findings in pediatric patients. The pathogenesis of spinal extradural arachnoid cysts is not well known but is thought to most commonly be due to congenital dural defects. Other origins include trauma, inflammation, or infection, such as arachnoiditis. Spinal magnetic resonance imaging is the gold standard for diagnosis, showing a fluid-filled space dorsal to the spinal cord with signal intensity akin to cerebrospinal fluid (CSF) and often the site of dural defect with CSF leak...

BACKGROUND: Moyamoya disease often presents white matter hyperintensity (WMH) lesions on fluid-attenuated inversion recovery (FLAIR) images, which is generally accepted as irreversible. We, herein, describe three cases of moyamoya disease with WMH lesions that regressed or disappeared after surgical revascularization. CASE DESCRIPTION: This report included two pediatric and one young adult case that developed transient ischemic attacks or ischemic stroke due to bilateral Moyamoya disease...

BACKGROUND: Although uncommon, cerebellar contusions are associated with significant morbidity and mortality. Literature is lacking in the prognostic and morphological factors relating to their clinical picture and outcomes, especially within children. The objective of this study is to evaluate prognostic and anatomic factors in the clinical picture of cerebellar contusions, including effacement of the 4th ventricle and cisterna magna. METHODS: This is a retrospective chart review over 11 years across two medical centers...

Youth with functional neurological symptom disorder (FNSD) often perceive themselves as having limited capabilities, which may not align with clinical evaluations. This study assessed the disparities between clinician evaluations and patient-reported outcome measures (PROMs) regarding pain, motor function, and learning difficulties in youth with FNSD. Sixty-two youths with FNSD participated in this study, all of whom reported experiencing pain, motor problems, and/or learning difficulties. Clinicians also assessed these domains, resulting in a two-by-two categorization matrix: (1) agreement : child and clinician report "problems"; (2) agreement : child and clinician report "no problems"; (3) disagreement: child reports "problems" while the clinician does not; and (4) disagreement: clinician reports "problems" while the child does not...

BACKGROUND: Febrile seizures (FS) are the most common seizure disorder in children and a common neurologic complication in children with coronavirus disease 2019 (COVID-19). This study aimed to identify differences in clinical characteristics and disease burden between FS with and without COVID-19. MATERIALS AND METHODS: We conducted a retrospective analysis of medical data at our hospital from December 2019 to July 2023, focusing on hospitalized patients under the age of 14 diagnosed with FS who underwent COVID-19 polymerase chain reaction (PCR) testing...

OBJECTIVES: Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III. METHODS: This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children's Hospital...

The Australian Paediatric Surveillance Unit (APSU), established in 1993 to address the paucity of national data on rare childhood disorders, has become an invaluable research resource. It facilitates prospective, active surveillance for a variety of rare disorders, with monthly reporting by ~1500 paediatricians, who are invited to notify incident cases and provide demographic and clinical data. APSU is highly collaborative (used by >400 individuals/organisations), patient-informed and productive (>300 publications)...