Pediatric Neurosurgery最新文献

Introduction: This study aimed to develop and validate a reliable, multi-domain scale for assessing childhood hydrocephalus severity and to enhance communication, guide treatment decisions, and improve patient care.

Methods: A stepwise consensus approach informed by a modified Delphi technique was employed. Healthcare professionals participated in anonymous surveys and face-to-face meetings to define the core domains of the scale. Content validity, internal consistency, and inter-rater reliability were assessed.

Results: The Delphi process yielded a refined 7-item, 10-point Childhood Hydrocephalus Severity Scale (CHS) focussing on age, Evans index, associated malformations, neurological deficit, intraventricular haemorrhage, and mid-arm circumference. Content validity analysis using the Content Validity Index (CVI) demonstrated strong agreement (mean I-CVI = 0.91) among experts regarding the relevance of CHS items. All individual item CVI scores exceeded 0.8, supporting the inclusion of each factor. The CHS exhibited excellent internal consistency (Cronbach's alpha = 0.988). High intraclass correlation coefficients (ICC) were observed for both single measures (ICC = 0.902, 95% CI: 0.862-0.931) and average measures (ICC = 0.985, 95% CI: 0.978-0.990), indicating near-perfect agreement between raters. Both ICC values were statistically significant (p < 0.001).

Conclusion: The CHS demonstrates promising potential as a reliable and valid tool for childhood hydrocephalus severity assessment. This scale has the potential to enhance communication, guide treatment decisions, and improve patient care in childhood hydrocephalus.

Introduction: Pediatric hemifacial spasm (HFS) is rare, presenting early in infancy, and often fraught with subsequent psychomotor and intellectual deficits. Fourth ventricular hamartoma (FVH) is a rare cause of HFS with only 5 cases reported in literature. While gamma knife radiosurgery (GKRS) has been used to treat hypothalamic hamartomas, this is the first case of FVH treated with primary GKRS.

Case presentation: A two-year-old female presented with persistent episodes of HFSs and dystonic posturing with an early resistance to medication. Thorough radiological profiling of the fourth ventricular tumor is the suggested tentative diagnosis of FVH. The patient's guardians refused surgical intervention and gave consent for GKRS aware of the lack of literature on its use in FVH. She underwent frame-based GKRS covering a total target volume of 0.986 cc with 13 Gy@50% with Leksell Perfexion. The patient showed a phasic response to GKRS with remarkable seizure control at a 1.5-year follow-up.

Conclusion: Previous studies have suggested that gelastic seizures of hypothalamic hamartoma are comparable to HFSs of FVH. Our case exemplifies another key similarity between the two, i.e., a near-congruent phasic response to GKRS. This hints at the underlying pathophysiology of HFS in similar pathologies and GKRS as a treatment option in select patients.

Introduction: Hereditary bleeding disorders stem from the absence or insufficient levels of particular clotting proteins, essential for facilitating coagulation in the clotting cascade. Among the most prevalent are hemophilia A (deficiency of Factor VIII), hemophilia B (deficiency of Factor IX), and von Willebrand disease. Management of pharmacoresistant epilepsy is more difficult in a patient with bleeding disorder due to increased risk of bleeding during surgery. There are no reported instances of invasive intracranial monitoring being conducted on patients with both a bleeding disorder and medically refractory epilepsy.

Case presentation: Two patients with bleeding disorders (vWD and factor XI deficiency) underwent invasive intracranial monitoring for medical refractory epilepsy followed by epilepsy focus resection surgery. Both patients were found to have a bleeding disorder during their preoperative lab work. After abnormal labs were reported, both patients were referred to hematology for further evaluation and surgical planning. The first patient was a 10-year-old boy with medically refractory focal epilepsy who was found to have type 2M von Willebrand disease. He underwent surgery for subdural grid placement followed by resection on post-operative day 6. He required Wilate® (antihemophilic and von Willebrand factor complex) infusions from preoperative day 0 through post operative day 14. The second case was a 2-year-old boy with a history of tuberous sclerosis and medically refractory epilepsy who was found to have factor XI deficiency (hemophilia C) who required FFP and platelet transfusions throughout his hospitalization. He underwent surgery for sEEG followed by resection of the tubers. Both patients remained stable throughout their invasive monitoring and completed epilepsy resection surgeries without reported complications. Both patients achieved seizure freedom with surgery.

Conclusion: The two patients successfully underwent invasive neuro monitoring with subdural grids and sEEG for seizure focus identification followed by resective epilepsy surgery without bleeding complications while achieving seizure freedom. Epilepsy patients with a bleeding disorder should not be denied surgery due to increased risk of hemorrhage, however they should undergo a thorough multi-disciplinary evaluation for the patient to safely undergo an invasive procedure.

Introduction: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab.

Case presentation: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases.

Conclusion: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.

Introduction: In children and adolescents, brain and central nervous system (CNS) tumors are the leading types of cancers. Past studies have found differing rates of intracranial cancers among races and identified additional cancer risk factors. This study aimed to see if these differences can be substantiated with further investigation of the latest version (2019) of the Kids' Inpatient Database (KID).

Methods: A total of 7,818 pediatric patients <21 years old in KID with ICD-10 codes consisting of malignant neoplasms of the brain, brainstem, and cerebral meninges (C700, C709-C719) were queried. Modifiable risk factors evaluated include: hospital region, insurance type, hospital city size, the average income of patient zip code, and location/teaching status of a hospital. Non-modifiable risk factors were race and sex at birth. Dependent variables were tested in Excel and GraphPad Prism 9 using a χ2 test with Yates' continuity correction and Tukey's one-way and two-way ANOVAs.

Results: Mortality rates of females (2.88%) compared to males (1.99%) were significant (p < 0.05). Mortality was (4.17%) in black patients compared to (1.68%) for white (p < 0.0001), Hispanic mortality (2.95%) compared to white (p < 0.01), and mortality of Asian/Pacific Islander (3.86%) compared to white (p < 0.01). Black patients had significantly higher mortality than white, Hispanic, Asian/Pacific Islander, Native American, and other races overall (p < 0.01). There was no significant difference in the mortality rates between children's hospitals and large hospitals for any race. After accounting for patient race, mortality was still not significantly different for patients with Medicaid insurance compared to non-Medicaid insurance types. Of the children treated at children's hospitals, the most transferred in from outside hospitals were Native American (20.00%) followed by Asian/Pacific Islander (15.09%) then Hispanic patients (13.67%). A significant difference between races was also seen regarding length of stay (p < 0.001) and number of charges (p < 0.001).

Conclusion: These findings confirm prior studies suggesting gender and race are significant factors in mortality rates for children with intracranial neoplasms. However, the findings do not identify the root causes of these discrepancies but may serve as an impetus for clinicians, healthcare administrators, and governmental leaders to improve national resource allocation to better care for pediatric patients with intracranial neoplasms.

Introduction: Open spina bifida (OSB) is the most common congenital anomaly of the central nervous system. It is associated with severe neurodevelopmental delay, motor impairment, hydrocephalus, and bowel and bladder dysfunction. In selected cases, intrauterine spina bifida repair has been shown to improve neonatal outcomes. Rarely, the spine can have a double defect compromising two different segments and there is a lack of evidence on the feasibility and benefits of intrauterine repair in these cases.

Case presentation: We present a case with both cervicothoracic and lumbosacral myelomeningocele, Arnold-Chiari malformation type II and bilateral ventriculomegaly, that was treated successfully at 25 weeks with open micro-neurosurgery. Double myelomeningocele was successfully treated through a single 2-cm micro-hysterotomy, by performing external versions to sequentially expose and repair both defects. Weekly postoperative follow-up showed no progression of ventriculomegaly or complications attributable to the procedure. Preterm rupture of membranes prompted a conventional cesarean delivery at 32 weeks of gestation. Neurodevelopmental outcome at 20 months was within normal ranges, having achieved ambulation without orthopedic support and with no need for ventriculoperitoneal shunting.

Conclusion: This report demonstrates for the first time the feasibility of double OSB repair through a single 2-cm micro-hysterotomy, suggesting that selected isolated cases of double myelomeningocele could be candidates for fetal intervention. Further prospective studies should be carried out to assess the potential benefit of double OSB intrauterine open repair.

Introduction: Pediatric cavum cysts are a rare yet complicated pathology to manage. The literature is scarce, primarily consisting of case series, and lacking a consensus regarding clear management. In this scoping review, we aimed to compile existing information in the literature regarding the management of pediatric cavum cysts across the last 10 years. We also present our management of 19 patients, the largest case series to date, highlighting knowledge gaps surrounding the management of this salient pathology.

Methods: A literature search using PubMed and SCOPUS was conducted using the following search terms: (pediatric) AND (Cavum septum pellucidum) OR (cavum vergae) OR (cavum velum interpositum) AND (management). Eligibility criteria included peer-reviewed publication published in the last 10 years, pediatric population, cavum cyst, and English language. A retrospective search was conducted for all pediatric cavum cysts between 2013 and 2023 at our institution. Clinical and radiographic characteristics as well as intervention and outcome data were collected for both the scoping review and our cases.

Results: 330 total articles were populated using our search. 12 articles met our inclusion criteria. 41.7% (n = 5) of the articles were case series, 33.3% (n = 4) were case reports, 8.3% (n = 1) was a technical article, 8.3% (n = 1) was a systematic review, and 8.3% (n = 1) was a case questionnaire. Resolution of symptoms was noted in all articles of our scoping review, regardless of treatment modality. The average age in our case series was 9.84 years old and average age at diagnosis was 5.53 years old. 6 patients (31.6%) were female and 13 patients (68.4%) were male. 2 out of the 19 patients (10.5%) were surgically treated.

Conclusion: There is no clear consensus on the management of cavum cysts. A prospective, multicenter study is needed to create standardized pediatric cyst management guidelines. The current thought is that surgical intervention should be saved for those patients with obstructive hydrocephalus and signs of intracranial hypertension.

Background: Traumatic injuries to the cervical spine or spinal cord are uncommon pathologies in the pediatric population. As injury severity is disproportionately higher among children due to significant risk for debilitating long-term disability, traumatic spinal fractures in children raise greater clinical concern than comparable injuries in adults.

Summary: Unlike adults, children possess unique features such as incomplete ossification of vertebrae, synchondroses, pseudo-subluxation, horizontal alignment of ligaments, and absence of lordosis, which results in greater mobility and flexibility in the pediatric spine. These features are prominent in the cervical spine, which accounts for the most common area of traumatic spinal injuries in children.

Key messages: In this review, we summarize injury patterns, diagnosis, and treatment of traumatic cervical spine injuries in the pediatric population.