RESUMEN
OBJECTIVE: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role of neurosurgery in the comprehensive management of RTS patients. METHODS: A retrospective review of patients with genetically confirmed RTS presenting between 2010-2023 at Children's Hospital of Pittsburgh was performed. Patient demographics, genetic profile, clinical symptoms, radiographic characteristics, and neurosurgical management were recorded for all patients. RESULTS: Twenty-one patients (13 females, 8 males) aged 0 to 22 years presented for formal genetic counseling and diagnosis. Twenty patients (95%) had CREBBP pathogenic variants (RTS Type 1), and one patient (5%) had EP300 pathogenic variants (RTS Type 2). Ten patients (48%) had a low-lying conus medullaris, and three patients (30%) underwent subsequent spinal cord detethering. Four patients (19%) had a Chiari malformation and three (75%) underwent Chiari decompression surgeries. One patient (5%) had Chiari-associated syringomyelia. CONCLUSIONS: RTS patients have an increased rate of tethered cord syndrome requiring detethering. The incidence of symptomatic Chiari I malformation requiring decompression has not been previously reported. The RTS series presented here demonstrates a high incidence of symptomatic Chiari I malformation in addition to tethered cord syndrome.
RESUMEN
BACKGROUND: Intra-axial brain tumors persist as significant clinical challenges. Aggressive surgical resection carries risk of morbidity, and the blood-brain barrier (BBB) prevents optimal pharmacological interventions. There is a clear clinical demand for innovative and less invasive therapeutic strategies for patients, especially those that can augment established treatment protocols. Focused ultrasound (FUS) has emerged as a promising approach to manage brain tumors. Sonodynamic therapy (SDT), a subset of FUS, utilizes sonosensitizers activated by ultrasound waves to generate reactive oxygen species (ROS) and induce tumor cell death. OBJECTIVE: This review explores the historical evolution and rationale behind SDT, focusing on its mechanisms of action and potential applications in brain tumor management. METHOD: A systematic review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. RESULTS: Preclinical studies have demonstrated the efficacy of various sonosensitizers, including 5-aminolevulinic acid (5-ALA), fluorescein, porphyrin derivatives, and nanoparticles, in conjunction with FUS for targeted tumor therapy and BBB disruption. Clinical trials have shown promising results in terms of safety and efficacy, although further research is needed to fully understand the potential adverse effects and optimize treatment protocols. Challenges such as skull thickness affecting FUS penetration, and the kinetics of BBB opening require careful consideration for the successful implementation of SDT in clinical practice. Future directions include comparative studies of different sonosensitizers, optimization of FUS parameters, and exploration of SDT's immunomodulatory effects. CONCLUSION: SDT represents a promising frontier in the treatment of aggressive brain tumors, offering hope for improved patient outcomes.
Asunto(s)
Neoplasias Encefálicas , Glioma , Terapia por Ultrasonido , Humanos , Neoplasias Encefálicas/terapia , Neoplasias Encefálicas/patología , Glioma/terapia , Terapia por Ultrasonido/métodos , Barrera Hematoencefálica/efectos de los fármacos , Adulto , AnimalesRESUMEN
BACKGROUND AND OBJECTIVES: Pleomorphic xanthoastrocytoma (PXA) is a rare low-grade glial tumor primarily affecting young individuals. Surgery is the primary treatment option; however, managing residual/recurrent tumors remains uncertain. This international multi-institutional study retrospectively assessed the use of stereotactic radiosurgery (SRS) for PXA. METHODS: A total of 36 PXA patients (53 tumors) treated at 11 institutions between 1996 and 2023 were analyzed. Data included demographics, clinical variables, SRS parameters, tumor control, and clinical outcomes. Kaplan-Meier estimates summarized the local control (LC), progression-free survival, and overall survival (OS). Secondary end points addressed adverse radiation effects and the risk of malignant transformation. Cox regression analysis was used. RESULTS: A total of 38 tumors were grade 2, and 15 tumors were grade 3. Nine patients underwent initial gross total resection, and 10 received adjuvant therapy. The main reason for SRS was residual tumors (41.5%). The median follow-up was 34 months (range, 2-324 months). LC was achieved in 77.4% of tumors, with 6-month, 1-year, and 2-year LC estimates at 86.7%, 82.3%, and 77.8%, respectively. Younger age at SRS (hazard ratios [HR] 3.164), absence of peritumoral edema (HR 4.685), and higher marginal dose (HR 6.190) were significantly associated with better LC. OS estimates at 1, 2, and 5 years were 86%, 74%, and 49.3%, respectively, with a median OS of 44 months. Four patients died due to disease progression. Radiological adverse radiation effects included edema (n = 8) and hemorrhagic change (n = 1). One grade 3 PXA transformed into glioblastoma 13 months after SRS. CONCLUSION: SRS offers promising outcomes for PXA management, providing effective LC, reasonable progression-free survival, and minimal adverse events.
RESUMEN
Management of intracranial aneurysms (IAs) is determined by patient age, risk of rupture, and comorbid conditions. While endovascular and microsurgical interventions offer solutions to mitigate the risk of rupture, pharmacological management strategies may complement these approaches or serve as alternatives in appropriate cases. The pathophysiology of IAs allows for the targeting of inflammation to prevent the development and rupture of IAs. The aim of this review is to provide an updated summary of different pharmaceutical management strategies for IAs. Acetylsalicylic acid and renin-angiotensin-aldosterone system (RAAS) inhibitor antihypertensives have some evidence supporting their protective effect. Studies of selective cyclooxygenase-2 (COX-2) inhibitors, statins, ADP inhibitors, and other metabolism-affecting drugs have demonstrated inconclusive findings regarding their association with aneurysm growth or rupture. In this manuscript, we highlight the evidence supporting each drug's effectiveness.
RESUMEN
PURPOSE: Clival metastatic cancer is rare and has limited literature to guide management. We describe management of clival metastasis with Gamma Knife radiosurgery (GKRS). We augment our findings with a systematic review of all forms of radiation therapy for clival metastasis. METHODS: Records of 14 patients with clival metastasis who underwent GKRS at the University of Pittsburgh Medical Center from 2002 to 2023 were reviewed. Treatment parameters and clinical outcomes were assessed. A systematic review was conducted using evidence-based guidelines. RESULTS: The average age was 61 years with male predominance (n = 10) and average follow-up of 12.4 months. The most common primary cancers were prostate (n = 3) and lung (n = 3). The average time from cancer diagnosis to clival metastasis was 34 months. The most common presenting symptoms were headache (n = 9) and diplopia (n = 7). Five patients presented with abducens nerve palsies, and two presented with oculomotor nerve palsies. The median tumor volume was 9.3 cc, and the median margin dose was 15 Gy. Eleven patients achieved tumor control after one procedure, and three with progression obtained tumor control after repeat GKRS. One patient recovered abducens nerve function. The median survival from cancer diagnosis and GKRS were 49.7 and 15.3 months, respectively. The cause of death was progression of systemic cancer in six patients, clival metastasis in one, and unknown in four. The systematic review included 31 studies with heterogeneous descriptions of treatment and outcomes. CONCLUSION: Clival metastasis is rare and associated with poor prognosis. GKRS is a safe, effective treatment for clival metastasis.
Asunto(s)
Fosa Craneal Posterior , Radiocirugia , Neoplasias de la Base del Cráneo , Humanos , Persona de Mediana Edad , Masculino , Femenino , Fosa Craneal Posterior/patología , Fosa Craneal Posterior/cirugía , Anciano , Neoplasias de la Base del Cráneo/radioterapia , Neoplasias de la Base del Cráneo/patología , Neoplasias de la Base del Cráneo/secundario , Neoplasias de la Base del Cráneo/cirugía , AdultoRESUMEN
In 1994, the use of interfacet spacer placement was for joint distraction, reduction, and fusion to supplement atlantoaxial or occipitocervical fixation. Here, we present a unique case of bilateral atlantoaxial interfacet fixation using cervical facet cages (CFC) in a pediatric patient with basilar invagination. In addition, we review the literature on atlantoaxial facet fixation. We present a 12-year-old boy with Wiedemann-Steiner syndrome who presented with multiple episodes of sudden neck jerking, described as in response to a sensation of being shocked, and guarding against neck motion, found to have basilar invagination with cervicomedullary compression. He underwent an occiput to C3 fusion with C1-C2 CFC fixation. We also conducted a literature review identifying all publications using the following keywords: "C1" AND "C2" OR "atlantoaxial" AND "facet spacer" OR "DTRAX." The patient demonstrated postoperative radiographic reduction of his basilar invagination from 6.4 to 4.1 mm of superior displacement above the McRae line. There was a 4.5 mm decrease in the atlantodental interval secondary to decreased dens retroflexion. His postoperative course was complicated by worsening of his existing dysphagia but was otherwise unremarkable. His neck symptoms completely resolved. We illustrate the safe use of CFC for atlantoaxial facet distraction, reduction, and instrumented fixation in a pediatric patient with basilar invagination. Review of the literature demonstrates that numerous materials can be safely placed as a C1-C2 interfacet spacer including bone grafts, titanium spacers, and anterior cervical discectomy and fusion cages. We argue that CFC may be included in this arsenal even in pediatric patients.
Asunto(s)
Articulación Atlantoaxoidea , Fusión Vertebral , Humanos , Masculino , Niño , Articulación Atlantoaxoidea/cirugía , Articulación Atlantoaxoidea/diagnóstico por imagen , Fusión Vertebral/métodos , Vértebras Cervicales/cirugía , Vértebras Cervicales/diagnóstico por imagen , Fijadores Internos , Articulación Cigapofisaria/cirugía , Articulación Cigapofisaria/diagnóstico por imagenRESUMEN
Background: The placement of an external ventricular drain (EVD) for the treatment of acute hydrocephalus is one of the most common life-saving procedures that neurosurgeons perform worldwide. There are many well-known complications associated with EVD placement, including tract hemorrhages, intra-parenchymal and subdural hemorrhages, infection, and catheter misplacement. Given the variety of complications associated with EVD placement and the inconsistent findings on the relationship of accuracy to complications, the present study reviewed short- and long-term complications related to EVD placement at our institution. Methods: A retrospective review was conducted for all consecutive patients who underwent bedside EVD placement for any indication between December 2020 and December 2021. Collected variables included demographic information, etiology of disease state, pre-and post-operative head computed tomography measurements, and post-procedural metrics (immediate and delayed complications). Results: A total of 124 patients qualified for inclusion in our study. EVDs that were non-functioning/exchanged were not significantly related to age, accuracy, ventriculomegaly, sex, disposition, laterality, type of EVD used, intraventricular hemorrhage (IVH), etiology, or Kakarla Grade (KG) (all P > 0.17). The need for a second EVD was similarly not related to age, accuracy, ventriculomegaly, sex, disposition, location, laterality, type of EVD used, IVH, etiology, or KG (all P > 0.130). Patients who died, however, were significantly more likely to have a second contralateral EVD placed (18.2% vs. 4.9% P = 0.029). We also found that left-sided EVDs were significantly more likely to fail within seven days of placement (29.4% vs 13.3%, P = 0.037; relative risk (RR) 1.93, 95% confidence interval: 1.09-3.43), unrelated to age, sex, etiology, type of EVD, IVH, location of the procedure, or accuracy (all P > 0.07). This remained significant when using a binary logistic regression to control for ventriculomegaly, accuracy, mortality, age, sex, and etiology (P = 0.021, B = 3.43). Conclusion: In our cohort, although a clear relationship between inaccuracy and complication rates was not found, our data did demonstrate that left-sided EVDs were more likely to fail within the immediate postoperative time point, and patients who died were more likely to have a second, contralateral EVD placed.
RESUMEN
Rudimentary meningoceles of the spine with dural extension are very rare and warrant surgical excision to prevent infection and long-term neurological deficits in pediatric patients. We present the case of a 5-month-old infant with a tethered spinal cord secondary to a rudimentary meningocele. The patient presented shortly after birth with a midline cervical dimple that was evaluated for a suspected dermal sinus tract. Magnetic resonance imaging scan of the spine showed a sinus tract with intradural extension to C2-3 and external opening at the level of spinous process C5. En bloc surgical excision and spinal cord release were successfully performed. Histological analysis of the specimen confirmed the presence of two blunt sinus tracts and staining was consistent with a rudimentary meningocele. Intradural rudimentary meningoceles in infants can successfully be managed with surgical intervention. Surgery is indicated to prevent future motor complications from spinal cord tethering and neoplastic growth from the rudimentary meningocele.