Pediatric Neurosurgery最新文献

Introduction: Medulloblastoma is the most common malignant tumor in the pediatric population. Current treatment of these lesions includes maximum safe resection, chemotherapy, and radiotherapy. Quality of life for these patients as well as postoperative complications remains with poorer prognosis compared to other posterior fossa tumors. Therefore, the surgical approach should be tailored to diminish the probability of coursing with postoperative complications such as cerebellar mutism. Minimally invasive techniques with tubular retractors have been described for supratentorial lesions. However, evidence remains scarce for lesions in the posterior fossa. Similarly, there are no available reports of the use of these techniques in pediatric patients.

Case presentation: We present the case of an 11-year-old girl with a medulloblastoma. An infradentate approach was elected as the course of action looking to reduce the risk of postoperative cerebellar mutism syndrome. In the 2-year follow-up, the patient remained asymptomatic with no cerebellar signs nor recurrence of the lesion.

Conclusion: We present the first case of a medulloblastoma treated with tubular ports in our center looking to discuss its feasibility for the treatment of posterior fossa tumors in pediatric patients. To the best of our knowledge, this is the first report of transcranial ports used in a pediatric patient for the resection of a medulloblastoma. Infradentate tubular resection could be a feasible and reproducible approach in pediatric patients, reducing the risk of injury to anatomical structures and cerebellar mutism.

Introduction: Intrathecal baclofen therapy and baclofen pumps can lead to complications, including recurrent cycles of alternating hypertonia and hypotonia. The causes and optimal treatments for this issue remain unclear. This study reviews presentations, radiologic and surgical findings, treatments, and outcomes in cases of cyclic hypertonia/hypotonia.

Methods: We reviewed patients with baclofen pumps treated at our hospital from 1998 to 2024 who developed cyclic hypertonia/hypotonia. Data collected included patient sex, etiology and type of tone abnormality, age at pump placement, age and weight at symptom onset, infusion rate and type at onset, side port access and catheter dye study results, treatments, surgical findings, and outcomes.

Results: We identified 15 cases in 14 patients (10 females, 71%; 4 males, 29%). Among 248 patients with baclofen pumps, 38% were female. Females were significantly more likely to develop cyclic hypertonia/hypotonia (p < 0.01). The mean age at pump implantation was 10.2 years, and the mean time from last pump surgery to symptom onset was 645 days. All patients received enteric baclofen initially; 14 also had pump rate adjustments. Three patients improved without surgery, and one died during a hypotonia episode. Side port access showed patent catheters in 7 of 8 cases, with 6 of these showing good intrathecal dye dispersion. Surgery was performed in 11 cases, including two surgeries in 6 cases. Nine patients had pump replacements; 8 also had catheter revisions. Surgical findings included catheter kinks in 4 cases (36% of surgical cases) and leaks in 5 cases (45%), with 4 leaks at the pump-connector catheter connection. Six of 11 partial revisions (55%) and all 5 complete catheter replacements (100%) resulted in symptom resolution without recurrence. Replacing the pump-connector segment resolved symptoms without recurrence in 4 of 5 patients with leaks at this site. Overall, all patients undergoing surgery experienced symptom improvement without recurrence after one or two revisions.

Conclusion: Adjusting pump rates and adding enteric baclofen may help some patients with cyclic hypertonia/hypotonia. If a leak at the pump-connector catheter segment is identified, segment replacement should be considered. When partial revisions fail, complete catheter replacement appears more effective, especially as a second surgery. Cyclic hypertonia/hypotonia is a treatable complication of baclofen pumps.

Introduction: Hemispherectomies, hemispherotomies, and lobectomies of the brain are neurosurgical techniques used to treat drug-resistant epilepsy (DRE). While effective for seizure control, these neurosurgical interventions can produce significant functional deficits including hemiparesis and iatrogenic cerebral palsy. In this study, we aimed to evaluate the resulting MSK pathology following surgery for DRE so that we may establish the incidence of new MSK pathology, identify risk factors for developing MSK pathology, and guide orthopaedic follow-up care.

Methods: A retrospective chart review of 168 paediatric patients who underwent a brain hemispherectomy, hemispherotomy, or lobectomy between 2009 and 2018 was performed. Data including pre-existing neurological and orthopaedic conditions, presence of MSK pathology that emerged post-neurosurgical procedure, documented referral to orthopaedics, and post-operative interventions were collected. A multivariate logistic regression model was used to correlate predictive variables with the risk for developing new MSK pathology.

Results: Of the 168 patients included, 45.2% (n = 76) developed a new MSK condition post-operatively. Of those with new MSK pathology, 30.3% (23) received orthopaedic follow-up. Of those, 34.8% (8) underwent a subsequent orthopaedic surgery. The median time to diagnosis of emerging MSK pathology following neurosurgical intervention was 0.7 months (range: 0-128 months), while the median time from emergence of symptoms to orthopaedic follow-up was 9.5 months (range: 2-161 months). Of the 28 patients who had MSK pathology prior to neurosurgical intervention, 42.8% (n = 12) were seen by orthopaedic providers following neurosurgery, of which 58.3% (n = 7) required orthopaedic surgery. Older age at the time of initial neurological surgery was significantly associated with decreased risk for developing new post-operative MSK pathology (OR 0.985, 95% CI: 0.979-0.911, p < 0.001), while repeat or revision neurosurgery was associated with increased risk (OR 3.728, 95% CI: 1.530-9.083, p < 0.01).

Conclusion: Paediatric patients who undergo hemispherectomies, hemispherotomies, or lobectomies for DRE are subject to a significant post-operative burden of MSK disease, yet less than 1/3 of newly-affected patients receive orthopaedic follow-up - highlighting a gap between the need for and provision of orthopaedic care in this population.

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: Pediatric craniopharyngiomas (CPGs) are histologically benign but clinically complex tumors. Traditional mainstays of treatment include surgical resection and radiotherapy. Molecular insights report that children tend to have the adamantinomatous subtype that is driven by the CTNNB1 pathway, while papillary CPGs prevalent in the adult population are characterized by BRAFV600E mutations. Mixed histological subtypes are rare. We report an unusual case of a pediatric CPG with both histological subtypes and discuss the management strategies in corroboration with contemporary literature.

Case presentation: A 11-year-old female presented with symptoms of panhypopituitarism, optic atrophy, and bitemporal hemianopia. Magnetic resonance imaging (MRI) of her brain demonstrated a lobulated cystic-solid sellar-suprasellar lesion. The patient had emergent stereotactic aspiration of the lesion and insertion of an Ommaya reservoir. Intraoperative cyst fluid cytology confirmed wet keratin nodules, characteristic of adamantinomatous CPG. Following that, intracystic interferon-alpha therapy was commenced with good response for approximately 7 months. However, tumor progression was noted on subsequent MRI scans, with difficulty aspirating from the Ommaya reservoir. In view of this, the patient underwent an uneventful transsphenoidal resection of the tumor. Histology reported a craniopharyngioma with mixed adamantinomatous and papillary features with BRAFV600E positivity. MRI scans performed 2 months after surgery showed tumor recurrence. Decision was made for a trial of a dabrafenib - a BRAF inhibitor. After commencement of dabrafenib monotherapy for 1 month, radiological evaluation showed good tumor response. At 24 months posttreatment, the patient was well with her tumor in remission. In addition, no treatment-related adverse side effects were observed.

Conclusion: We report a unique case of pediatric craniopharyngioma with mixed histological features that were managed successfully via a multimodality approach. Emphases are on molecular profiling of the said lesion, minimizing permanent morbidity and maintenance of quality of life for a growing child. In the context of tumors with BRAFV600E mutations, the use of targeted monotherapy can be considered.

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.

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.