Child's Nervous System最新文献

Background: Sagittal craniosynostosis, the most common nonsyndromic craniosynostosis, is primarily treated with surgical intervention to prevent developmental and cosmetic complications. Endoscopic surgical techniques offer a minimally invasive alternative with reduced blood loss, shorter operative times, and faster recovery. However, the influence of age at surgery on clinical outcomes remains unclear.

Methods: A systematic review of 25 studies, encompassing 1606 patients, was conducted to evaluate the relationship between age at surgery and perioperative outcomes. Data extracted included patient demographics, operative times, blood loss, transfusion rates, length of hospital stay (LOS), and postoperative complications. Logistic regression models were utilized to assess the association between patient age and outcomes.

Results: The mean age at surgery was 3.3 months (range = 1.6-5.6 months), with males comprising 73.3% of the cohort. Older age at surgery trended towards increased transfusion rates and LOS; however, these differences were not statistically significant. The pooled mean for estimated blood loss was 41.0 mL, and the mean operative time was 125.8 min. Complications were rare but included poor hemostasis, dural tears, and postoperative apneic episodes. No significant differences were observed in operative times or long-term outcomes based on age at surgery.

Conclusions: While younger patients undergoing endoscopic sagittal craniosynostosis repair exhibited trends towards improved perioperative metrics, no statistically significant differences were noted. These findings suggest that endoscopic repair remains a viable option across a range of early ages. Further prospective studies are needed to refine guidelines for optimal surgical timing and improve reporting on long-term outcomes.

Background: Craniofrontonasal dysplasia (CFND) is a rare X-linked disorder caused by mutations in the EFNB1 gene, typically characterized by hypertelorism, craniosynostosis, and facial asymmetry. Although other congenital anomalies have been reported, neural tube defects-particularly myelomeningocele (MMC)-have not previously been associated with CFND in humans.

Case description: We present the case of a full-term female neonate with prenatally diagnosed MMC and Chiari II malformation. She also exhibited a unique constellation of craniofacial features, including a wide frontal bone defect with brain prolapse, right anterior plagiocephaly, hypertelorism, and brachycephaly, giving the head a "smurf cap" appearance. Additional anomalies included a left diaphragmatic hernia and thumb hexadactyly. Genetic testing confirmed CFND via an EFNB1mutation. Early postnatal interventions included MMC repair, ventriculoperitoneal shunting, and diaphragmatic hernia repair. At 11 months, total cranial vault remodeling was performed to address progressive cranial deformity and encephalocele. A staged surgical approach used both autologous and homologous bone grafts to repair the cranial defect. At age 5, fronto-orbital advancement was performed. Long-term follow-up at 12 years showed complete graft integration, normal cognitive development, and satisfactory craniofacial growth, with mild maxillary hypoplasia and residual hypertelorism.

Conclusions: This case represents the first reported co-occurrence of CFND and MMC. The case also underscores the feasibility and long-term success of combined autologous and homologous bone grafting in extensive pediatric cranial vault reconstruction.

Background: The critical nature of normal intracranial pressure (ICP) and proper airway function in early brain development, particularly in the first 5 years, are well established. These elements are compromised in faciocraniosynostoses and potentially affect neurological growth. The impact of variations in ICP and airway on cognitive development remains underappreciated and challenging to quantify.

Objective: The primary aim of this study was to assess the efficacy and safety of a comprehensive early surgical intervention institutional protocol in children (0-5 years) with syndromic faciocraniosynostosis.

Methods: We retrospectively analyzed our comprehensive surgical protocol in children who consecutively underwent cranial vault and midface procedures for syndromic craniosynostosis between July 2015 and January 2024, focusing on those who underwent both calvarial and midface surgeries before the age of 5 years.

Surgical protocol: Our treatment algorithm prioritized posterior calvarial distraction (PCVD) as the initial intervention for children with faciocraniosynostoses. Frontal orbital advancement and remodeling (FOAR) is preferred to address aesthetic concerns and ICP in older children. Midface distraction was performed for clinically significant airway compromise.

Results: The cohort included 31 children with a mean age of 18.8 months at the initial surgery. The primary procedures included PCVD (n = 16), robotic-assisted frontofacial advancement (RAFFA) (n = 5), robotic-assisted midface distraction (RAMD) (n = 6), and FOAR (n = 4). The second procedure (n = 25) included RAFFA (n = 5), RAMD (n = 13), and FOAR (n = 7). The third procedure (n = 11) included RAMD (n = 1), FOAR (n = 9), and repeat PCVD (n = 1). The mean age of the patients at the final surgery was 57.5 months.

Conclusion: This comprehensive strategy addresses both cranial and midface issues and the challenge of optimizing cognitive development within the critical developmental window.

Periaqueductal gliomas are a subset of brainstem gliomas that typically present symptoms related to hydrocephalus due to obstruction of cerebrospinal fluid pathways. These tumors are generally low grade and have a favorable prognosis. Management often focuses on resolving hydrocephalus, with surgical intervention considered when symptoms or radiological images worsen. Sodium fluorescein is a fluorescent dye used in brain tumor surgeries to enhance visualization, allowing surgeons to distinguish between tumor tissue and normal brain tissue more effectively. This technique improves the precision and safety of tumor resection. We present the case of a 6-year-old patient in whom we performed the telovelar approach to resect periaqueductal gliomas via sodium fluorescein (2.5 mg/kg) for adequate resection, with excellent postoperative results. Ethics committee approval was not required to perform the surgical procedure on the patient. The patient's parents provided informed consent for the surgery and gave verbal consent for the publication of their video surgery.

Purpose: We faced and herein report a detailed description of pre-operative assessment, management, and post-operative follow-up of a 2-year and 10-month-old girl with neurofibromatosis 1 (NF1) who presented with severe, dystrophic, cervical kyphosis (170 degrees) associated with extensive pre- and para-vertebral plexiform neurofibromas, who also went under MEK inhibitors therapy. Cervical kyphosis in NF1 is particularly rare, and there is no extensive literature available on the subject in terms of clinico-radiological features, surgical approach, and outcomes. We therefore also performed a comprehensive review of the available literature on the topic.

Methods: The clinical report was made through the retrospective review of all medical documents and imaging of the patient. The systematic review was performed based on the inclusion and exclusion criteria set by the authors on surgical management of cervical kyphosis in NF1 patients according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Results: Our patient underwent a first-stage halo-gravity traction followed by a single-stage occipito-cervical posterior fusion. The six-week traction resulted in a reduction of the deformity from 170 to 90°. A further amelioration was obtained by surgery with a final 60% correction of the curvature (69° at last post-operative X-ray). No complications were observed at 1-and-a-half-year follow-up. The plexiform neurofibromas were treated with MEK inhibitors: trametinib for 1 year and 11 months until performing halo traction, and with selumetinib after surgery. We just found 19 papers suitable according to our selection criteria.

Conclusion: Combined anterior and posterior fusion (CAP) is generally the best treatment option, although it is not always feasible. When plexiform, symptomatic, inoperable neurofibromas coexist, surgery can be preceded or followed by MEK inhibitor treatment for better control or a volumetric reduction of the tumors. The best therapeutic choice should always be the result of a multidisciplinary, expert approach and patient-tailored design.

Purpose: Positional plagiocephaly (PP) and brachycephaly are conditions characterized by head flattening. There has been a sharp rise in the number of patients diagnosed since the American Academy of Pediatrics initiated the "Back to Sleep" policy to combat sudden infant death syndrome. This study compares providers' and guardians' perceived head shape differences, highlighting how these scores can alleviate parental anxiety.

Methods: A retrospective chart review was performed for all pediatric patients seen for a PP consult from January 2018 to November 2023. Fifty-nine patients (43 with plagiocephaly and 16 with brachycephaly) met the inclusion criteria, in which documentation recorded two severity scores, one rating each by the provider and parental guardian. Patient demographics, severity scores, and comorbidities were recorded. The institution utilized validated, qualitative assessment forms that evaluated plagiocephaly on a 15-point scale and brachycephaly on a 9-point scale.

Results: For plagiocephaly, the providers and guardians rated severity with a median of 4 (IQR 3-4.5) and 4 (IQR 3-7), respectively (Wilcoxon signed rank test, p-value < 0.05). For brachycephaly, the providers and guardians rated severity with a mean of 3.59 (SD 1.28) and 4.69 (SD 1.66), respectively (paired T-test, p-value < 0.005).

Conclusions: Our study highlights the similarities in scores assessing clinical severity between providers and parents evaluated in a standardized, qualitative assessment for PP. On average, plagiocephaly reflected a "mild" severity, while brachycephaly reflected a "mild" to "moderate" severity on a graded scale. Future studies are needed to determine how patient-provider interactions may influence parents' scores through shared decision-making.

Purpose: The knowledge of sleep disorders in children with brain tumours is limited. We aim to investigate the presence of possible sleep disturbances in this population.

Methods: Polysomnography (PSG) analysis was performed in our Paediatric Clinic from October 2017 to March 2019. Patients between 2 and 16 years old, treated for brain tumours at least 6 months after the end of treatments, were included. The exclusion criteria were children with seizures, taking sleep-interfering therapies, and adenotonsillar hypertrophy. We performed overnight PSG according to the American Academy of Sleep Medicine guidelines.

Results: We enrolled 16 patients (11 male). The median age at the diagnosis was 9.3 years (IQR 25-75°, 3.5-11.5), and the median age at PSG exam was 12.5 years (IQR 25-75°, 6.9-15.3). Eight out of sixteen patients had infratentorial tumours. The mean sleep record duration was 514 min (SD ± 86 min). The mean oxygen saturation was 97%, and the mean heart rate was 71 bpm (SD ± 14). Respiratory records showed a significantly increased median central apnoea index (CAI) in the infratentorial group (median value 1.2, IQR 25-75°, 0.85-1.45) compared with the supratentorial group (median value 0.3; IQR 25-75°, 0.2-0.5; p 0.0156). Electroencephalogram records showed alterations of night sleep organization: in particular, an increased N1 period, a shorter N2 period, and higher delta-sleep activity N3 period, compared with healthy populations.

Conclusion: Our results highlighted a higher prevalence of central apnoea in children with infratentorial tumours, showing a possible impact of posterior fossa localization on sleep and ventilatory control. Moreover, we described several sleep structure alterations, identifying an important issue to be taken into account in the follow-up of patients with brain tumours.

Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a genetic disease caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), resulting in seizures, vision/cognitive decline, and early death. Cerliponase alfa is an enzyme replacement therapy approved as treatment for CLN2 disease, administered by intracerebroventricular infusion via a surgically implanted device. Maintaining sterility for prolonged scalp-based infusions can be difficult in children and damage devices. We report the development of a technique connecting the intraventricular device and catheter to a chest port to mitigate some of these challenges.

Methods: We describe a seven-patient cohort who underwent implantation of our modified infusion system connecting a ventricular catheter distally to a central venous access device (CVAD) port implanted in the anterior chest.

Results: Between March 2019 and April 2024, seven (n = 7) patients aged 2-19 years underwent the placement of this system or had an old device converted to a CVAD port system. None of our patients has experienced significant access issues, infection, or required revision since implantation.

Conclusions: The use of an intraventricular access device connected to a CVAD allows for safe and efficacious long-term infusion of cerliponase alfa therapy and provides a more stable and well-tolerated alternative to scalp-based infusions.

Craniovertebral lipomas in children are rare, especially in association with hydrocephalus. We present two cases of craniovertebral lipomas, accompanied by hydrocephalus. Despite eliminating cerebrospinal fluid pathway occlusion as a result of lipoma resection, both patients were complicated by exaggerated ventriculomegaly requiring ventriculoperitoneal shunt placement. Eventually, both children were discharged home after regression of symptoms of increased intracranial pressure and remained stable during long-term follow-up. However, the pathogenesis of expanding hydrocephalus in such cases is yet unclear.

A retro-odontoid mass (R-OM) is a soft tissue mass that develops posterior to the odontoid process of the C2 vertebra. The instability leads to non-physiologic motion producing an inflammatory process with fibro cartilaginous mass that lead to spinal cord compression. Cervical fusion has been previously shown to reduce it in rheumatoid pannus.

Aims: (1) Investigate impact of cervical fixation on R-OM in a paediatrics, (2) assess which group have the greatest reduction, and (3) assess the timing of reduction.

Methods: Between 2005 and 2021, 52 children underwent craniocervical junction (CCJ) fixation. Of these, 35 (67%) children had measurable R-OM at the time of presentation. These children underwent either occipito-cervical or atlanto-axial fixation for atlantoaxial instability. All cases were treated in a single tertiary paediatric neurosurgical centre by a multidisciplinary team. All procedures were performed by the same neurosurgical team. Demographic data, including age, gender, diagnosis, type of surgery, and measurements of pre- and post-operative R-OM were recorded. Serial post-operative scans provided evidence of regression of R-OM. R-OM measurements were performed using T2 W mid-sagittal and axial views of MRI to calculate anterio-posterior (AP), craniocaudal (CC), and mediolateral/width (LL) dimensions.

Results: Twenty-four children underwent atlantoaxial (69%), and 11 children had occipito-cervical fixation (31%). The mean age was 8.9 years (range 2-18) with M:F ratio of 1:1.3. Metabolic causes were the most common group undergoing surgery, with MPS IV being the most prevalent subgroup. Pooled evaluation of all cases revealed significant reduction in R-OM following fixation in all measured dimensions. Subgroup analysis of underlying pathology revealed that the metabolic group showed the most significant reduction. Analysis of timing of regression of the R-OM revealed that the maximal reduction occurred at the mean of 3 years (35.54 months) following fixation with the range of 2 weeks to 10 years (0.13 to 120.77 months).

Conclusion: In our experience, R-OM is a common feature in atlantoaxial instability in the paediatric population. Cervical fixation leads to regression in R-OM, supporting instability as the driving force for formation of R-OM. Hence, resection of R-OM directly is not recommended and could expose the child to unnecessary risk.