Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.

OBJECTIVE: Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. The objectives of this study were to 1) perform a systematic review, thoroughly assessing different multidisciplinary clinic layouts utilized in centers worldwide; and 2) characterize an institutional experience with the management of these conditions, focusing on the patient demographics, clinical presentation, complications, and therapeutic strategies seen in a patient population. METHODS: A systematic review of studies involving multidisciplinary clinics and their reported structure was performed according to PRISMA guidelines using the PubMed database. Then a retrospective chart review of patients enrolled in the Oklahoma Children's Hospital Neurocutaneous Syndromes Clinic was conducted. RESULTS: A search of the PubMed database yielded 251 unique results. Of these, 15 papers were included in the analysis, which identified 16 clinics that treated more than 2000 patients worldwide. The majority of these clinics treated patients with neurofibromatosis (13/16). The remaining clinics treated patients with von Hippel-Lindau syndrome (n = 1), tuberous sclerosis complex (n = 1), and multiple neurocutaneous syndromes (n = 1). The most commonly represented subspecialties in these clinics were genetics (15/16) and neurology (13/16). Five clinics (31%) solely saw pediatric patients, 10 clinics saw a combination of children and adults, and the final clinic had separate pediatric and adult clinics. The retrospective chart review of the Neurocutaneous Syndromes Clinic demonstrated that 164 patients were enrolled and seen in the clinic from April 2013 to December 2021. Diagnoses were made based on clinical findings or results of genetic testing; 115 (70%) had neurofibromatosis type 1, 9 (5.5%) had neurofibromatosis type 2, 35 (21%) had tuberous sclerosis complex, 2 (1%) had von Hippel-Lindau syndrome, 2 (1%) had Gorlin syndrome, and the remaining patient (0.6%) had Aarskog-Scott syndrome. Patient demographics, clinical presentation, complications, and therapeutic strategies are also discussed. CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.

Encephalocraniocutaneous Lipomatosis.

A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation. Seven years later, he was started on adjuvant chemotherapy for gradual tumor progression. Over the ensuing 3 years, he had further disease progression despite treatment with 3 frontline chemotherapy regimens: vinblastine, carboplatin/vincristine, and irinotecan/bevacizumab. Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. He was started on trametinib, a MEK inhibitor, off-label, targeting the MAPK pathway downstream from FGFR1, with stable tumor size at last follow-up, after 6 months on therapy.

The role of occipital condyle and atlas anomalies on occipital cervical fusion outcomes in Chiari malformation type I with syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: Congenital anomalies of the atlanto-occipital articulation may be present in patients with Chiari malformation type I (CM-I). However, it is unclear how these anomalies affect the biomechanical stability of the craniovertebral junction (CVJ) and whether they are associated with an increased incidence of occipitocervical fusion (OCF) following posterior fossa decompression (PFD). The objective of this study was to determine the prevalence of condylar hypoplasia and atlas anomalies in children with CM-I and syringomyelia. The authors also investigated the predictive contribution of these anomalies to the occurrence of OCF following PFD (PFD+OCF). METHODS: The authors analyzed the prevalence of condylar hypoplasia and atlas arch anomalies for patients in the Park-Reeves Syringomyelia Research Consortium database who underwent PFD+OCF. Condylar hypoplasia was defined by an atlanto-occipital joint axis angle (AOJAA) ≥ 130°. Atlas assimilation and arch anomalies were identified on presurgical radiographic imaging. This PFD+OCF cohort was compared with a control cohort of patients who underwent PFD alone. The control group was matched to the PFD+OCF cohort according to age, sex, and duration of symptoms at a 2:1 ratio. RESULTS: Clinical features and radiographic atlanto-occipital joint parameters were compared between 19 patients in the PFD+OCF cohort and 38 patients in the PFD-only cohort. Demographic data were not significantly different between cohorts (p > 0.05). The mean AOJAA was significantly higher in the PFD+OCF group than in the PFD group (144° ± 12° vs 127° ± 6°, p < 0.0001). In the PFD+OCF group, atlas assimilation and atlas arch anomalies were identified in 10 (53%) and 5 (26%) patients, respectively. These anomalies were absent (n = 0) in the PFD group (p < 0.001). Multivariate regression analysis identified the following 3 CVJ radiographic variables that were predictive of OCF occurrence after PFD: AOJAA ≥ 130° (p = 0.01), clivoaxial angle < 125° (p = 0.02), and occipital condyle-C2 sagittal vertical alignment (C-C2SVA) ≥ 5 mm (p = 0.01). A predictive model based on these 3 factors accurately predicted OCF following PFD (C-statistic 0.95). CONCLUSIONS: The authors' results indicate that the occipital condyle-atlas joint complex might affect the biomechanical integrity of the CVJ in children with CM-I and syringomyelia. They describe the role of the AOJAA metric as an independent predictive factor for occurrence of OCF following PFD. Preoperative identification of these skeletal abnormalities may be used to guide surgical planning and treatment of patients with complex CM-I and coexistent osseous pathology.

Complications and outcomes of posterior fossa decompression with duraplasty versus without duraplasty for pediatric patients with Chiari malformation type I and syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: The aim of this study was to determine differences in complications and outcomes between posterior fossa decompression with duraplasty (PFDD) and without duraplasty (PFD) for the treatment of pediatric Chiari malformation type I (CM1) and syringomyelia (SM). METHODS: The authors used retrospective and prospective components of the Park-Reeves Syringomyelia Research Consortium database to identify pediatric patients with CM1-SM who received PFD or PFDD and had at least 1 year of follow-up data. Preoperative, treatment, and postoperative characteristics were recorded and compared between groups. RESULTS: A total of 692 patients met the inclusion criteria for this database study. PFD was performed in 117 (16.9%) and PFDD in 575 (83.1%) patients. The mean age at surgery was 9.86 years, and the mean follow-up time was 2.73 years. There were no significant differences in presenting signs or symptoms between groups, although the preoperative syrinx size was smaller in the PFD group. The PFD group had a shorter mean operating room time (p < 0.0001), fewer patients with > 50 mL of blood loss (p = 0.04), and shorter hospital stays (p = 0.0001). There were 4 intraoperative complications, all within the PFDD group (0.7%, p > 0.99). Patients undergoing PFDD had a 6-month complication rate of 24.3%, compared with 13.7% in the PFD group (p = 0.01). There were no differences between groups for postoperative complications beyond 6 months (p = 0.33). PFD patients were more likely to require revision surgery (17.9% vs 8.3%, p = 0.002). PFDD was associated with greater improvements in headaches (89.6% vs 80.8%, p = 0.04) and back pain (86.5% vs 59.1%, p = 0.01). There were no differences between groups for improvement in neurological examination findings. PFDD was associated with greater reduction in anteroposterior syrinx size (43.7% vs 26.9%, p = 0.0001) and syrinx length (18.9% vs 5.6%, p = 0.04) compared with PFD. CONCLUSIONS: PFD was associated with reduced operative time and blood loss, shorter hospital stays, and fewer postoperative complications within 6 months. However, PFDD was associated with better symptom improvement and reduction in syrinx size and lower rates of revision decompression. The two surgeries have low intraoperative complication rates and comparable complication rates beyond 6 months.

Endoscopic Placement of Fourth Ventricular Catheter Using Seldinger Technique: Description of Technique and Case Series.

BACKGROUND: Neonatal intraventricular hemorrhage remains a significant source of morbidity in premature and low-weight patients. Approximately 15% of patients who require cerebrospinal fluid shunting develop trapped fourth ventricle (TFV). Surgical treatment presents challenges with short- and long-term complications. OBJECTIVE: To describe a technique that applies the Seldinger technique with image-guided endoscopy for direct visualization of catheter placement. METHODS: A guidewire is passed down the endoscope while it is positioned in the fourth ventricle. The endoscope is removed while the guidewire is held in place. The catheter is slid down the guidewire. The guidewire is removed and placement is confirmed with image guidance. RESULTS: Three patients, all less than 14 mo old, with history of prematurity and intraventricular hemorrhage with ventriculoperitoneal shunts, presented with loculated hydrocephalus with TFV. They each underwent image-guided endoscopic fenestration of the fourth ventricle with placement of a fourth ventricular catheter performed by our described technique. All 3 patients recovered well and were discharged on postoperative day 1. Follow-up imaging showed decompression of the fourth ventricle and good placement of the fourth ventricular catheter. None have had complications from catheter placement, and one revision of a fourth ventricular catheter was needed, which was completed with the same described technique. CONCLUSION: This technique is well suited for cases in which a fourth ventricular catheter or a difficult trajectory catheter is needed during endoscopic fenestration or when distorted anatomy is present that would make a straight trajectory with a pen endoscope more difficult or higher risk.

Umbilical hernia causing ventriculoperitoneal shunt dysfunction: illustrative cases.

BACKGROUND: When ventriculoperitoneal (VP) shunts and umbilical hernias coexist in the same patient, unique complications can occur. Typically, these are readily identified problems such as cerebrospinal fluid (CSF) fistulas or entrapment of the peritoneal catheter in the hernia. The authors present cases of two children whose VP shunt dysfunction resolved after repair of their umbilical hernias. OBSERVATIONS: The authors present two cases of infant patients with shunted hydrocephalus and umbilical hernias. In both cases, the patients presented with distal shunt malfunctions not due to infection. Their shunt function improved once the umbilical hernia was repaired by pediatric surgery. Neither has required shunt revision since umbilical hernia repair. LESSONS: Although there are case reports of VP shunts eroding through the umbilicus, developing CSF fistulas, or becoming trapped inside umbilical hernias, there is no case of VP shunt dysfunction caused by just the presence of an umbilical hernia. The authors suspect that the catheter may intermittently enter and exit the hernia. This may cause intermittent obstruction of the distal catheter, or inflammation in the hernia may occur that limits CSF absorption.

Venous Sinus Stenosis Treatment in Pediatric Idiopathic Intracranial Hypertension: Illustrative Case and Literature Review.

OBJECTIVE: To review the literature of venous sinus stenosis (VSS) treatment in children for idiopathic intracranial hypertension (IIH) and present our own institutional case. METHODS: A literature review was conducted using the PubMed and MEDLINE databases up to June 2020. From 134 studies that were screened, 6 studies were chosen for analysis that included patients <18 years old, a diagnosis of IIH that fit Dandy diagnostic criteria, and angiogram obtained to assess for VSS. IIH symptoms experienced in the pediatric population and efficacy of venous sinus stenting were analyzed. RESULTS: Eleven patients identified in the literature and 1 patient from our institution were included in the analysis. There was no statistically significant difference in pressure gradient response to stenting between male and female patients (P = 0.424) or patients with body mass index >90th percentile (P = 0.626). Larger decreases in pressure gradient after stent placement correlated with headache resolution (P = 0.0005). Patients who underwent unilateral stenting showed greater reduction in pressure gradient compared with patients who underwent bilateral stenting (average change 24 mm Hg vs. 5.75 mm Hg, P = 0.003). CONCLUSIONS: Our analysis showed that VSS treatment has the potential to be a safe option for IIH in pediatric patients. VSS treatment has shown similar results to traditional cerebrospinal fluid diversion procedures, with a lower complication rate and need for revision. More studies should be conducted to analyze the long-term efficacy and safety of VSS treatment in pediatric patients with IIH.

Systematic review of the incidence and risk factors for cerebral vasculopathy and stroke after cranial proton and photon radiation for childhood brain tumors.

BACKGROUND: The aim of our study is to determine the incidence, timing, and risk factors for cerebral vasculopathy after cranial proton and photon radiation for pediatric brain tumors. METHODS: We performed a single-institution retrospective review of a cohort of children treated with proton radiation for brain tumors. MRA and/or MRI were reviewed for evidence of cerebral vascular stenosis and infarcts. Twenty-one similar studies (17 photon, 4 proton) were identified by systematic literature review. RESULTS: For 81 patients with median follow-up of 3 years, the rates of overall and severe vasculopathy were 9.9% and 6.2% respectively, occurring a median of 2 years post radiation. Dose to optic chiasm greater than 45 Gy and suprasellar location were significant risk factors. Results were consistent with 4 prior proton studies (752 patients) that reported incidence of 5% to 6.7%, 1.5 to 3 years post radiation. With significantly longer follow-up (3.7-19 years), 9 studies (1108 patients) with traditional photon radiation reported a higher rate (6.3%-20%) and longer time to vasculopathy (2-28 years). Significant risk factors were neurofibromatosis type 1 (NF-1; rate 7.6%-60%) and suprasellar tumors (9%-20%). In 10 studies with photon radiation (1708 patients), the stroke rate was 2% to 18.8% (2.3-24 years post radiation). CONCLUSIONS: Childhood brain tumor survivors need screening for vasculopathy after cranial radiation, especially with higher dose to optic chiasm, NF-1, and suprasellar tumors. Prospective studies are needed to identify risk groups, and ideal modality and timing, for screening of this toxicity.

Reported incidence and treatment modalities of giant cerebral aneurysms in the pediatric population: A systematic review and illustrative case report.

Giant intracranial aneurysms represent a complex pathology that pose challenges for management, especially in the pediatric population. With emerging endovascular techniques, combined endovascular and open surgical approaches may be a favorable alternative for complex cases. In this systematic review, we characterize the treatment modalities of giant aneurysms in the pediatric population and provide an update on the number of giant aneurysms reported in the literature by anatomic location. We conducted a literature search of PubMed, Embase, and Medline databases with the following terms: 'pediatric' AND 'giant' AND 'intracranial aneurysm.' Studies were included if data on treatment modality and aneurysm location were available for pediatric patients with giant intracranial aneurysms. The literature search yielded a total of 188 papers, with 82 pediatric patients from 33 articles ultimately meeting inclusion criteria. There were significantly more male than female patients (p = 0.011), with 52 and 29 respectively. Patients presenting with a ruptured aneurysm were significantly younger than patients presenting without rupture (p = 0.018), with a median age of 8.0 and 12.0 years, respectively. There were 45 giant aneurysms reported in the anterior circulation and 37 in the posterior circulation. Anterior aneurysms were most often treated with surgical approaches, while posterior aneurysms were typically treated with endovascular interventions (p = 0.002). Although combined surgical and endovascular approaches were the least frequently utilized, we suggest a combined approach may be particularly useful for patients with complex cases that require a management plan tailored to their needs.

Extradural decompression versus duraplasty in Chiari malformation type I with syrinx: outcomes on scoliosis from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: Scoliosis is common in patients with Chiari malformation type I (CM-I)-associated syringomyelia. While it is known that treatment with posterior fossa decompression (PFD) may reduce the progression of scoliosis, it is unknown if decompression with duraplasty is superior to extradural decompression. METHODS: A large multicenter retrospective and prospective registry of 1257 pediatric patients with CM-I (tonsils ≥ 5 mm below the foramen magnum) and syrinx (≥ 3 mm in axial width) was reviewed for patients with scoliosis who underwent PFD with or without duraplasty. RESULTS: In total, 422 patients who underwent PFD had a clinical diagnosis of scoliosis. Of these patients, 346 underwent duraplasty, 51 received extradural decompression alone, and 25 were excluded because no data were available on the type of PFD. The mean clinical follow-up was 2.6 years. Overall, there was no difference in subsequent occurrence of fusion or proportion of patients with curve progression between those with and those without a duraplasty. However, after controlling for age, sex, preoperative curve magnitude, syrinx length, syrinx width, and holocord syrinx, extradural decompression was associated with curve progression > 10°, but not increased occurrence of fusion. Older age at PFD and larger preoperative curve magnitude were independently associated with subsequent occurrence of fusion. Greater syrinx reduction after PFD of either type was associated with decreased occurrence of fusion. CONCLUSIONS: In patients with CM-I, syrinx, and scoliosis undergoing PFD, there was no difference in subsequent occurrence of surgical correction of scoliosis between those receiving a duraplasty and those with an extradural decompression. However, after controlling for preoperative factors including age, syrinx characteristics, and curve magnitude, patients treated with duraplasty were less likely to have curve progression than patients treated with extradural decompression. Further study is needed to evaluate the role of duraplasty in curve stabilization after PFD.

Dural augmentation approaches and complication rates after posterior fossa decompression for Chiari I malformation and syringomyelia: a Park-Reeves Syringomyelia Research Consortium study.

OBJECTIVE: Posterior fossa decompression with duraplasty (PFDD) is commonly performed for Chiari I malformation (CM-I) with syringomyelia (SM). However, complication rates associated with various dural graft types are not well established. The objective of this study was to elucidate complication rates within 6 months of surgery among autograft and commonly used nonautologous grafts for pediatric patients who underwent PFDD for CM-I/SM. METHODS: The Park-Reeves Syringomyelia Research Consortium database was queried for pediatric patients who had undergone PFDD for CM-I with SM. All patients had tonsillar ectopia ≥ 5 mm, syrinx diameter ≥ 3 mm, and ≥ 6 months of postoperative follow-up after PFDD. Complications (e.g., pseudomeningocele, CSF leak, meningitis, and hydrocephalus) and postoperative changes in syrinx size, headaches, and neck pain were compared for autograft versus nonautologous graft. RESULTS: A total of 781 PFDD cases were analyzed (359 autograft, 422 nonautologous graft). Nonautologous grafts included bovine pericardium (n = 63), bovine collagen (n = 225), synthetic (n = 99), and human cadaveric allograft (n = 35). Autograft (103/359, 28.7%) had a similar overall complication rate compared to nonautologous graft (143/422, 33.9%) (p = 0.12). However, nonautologous graft was associated with significantly higher rates of pseudomeningocele (p = 0.04) and meningitis (p < 0.001). The higher rate of meningitis was influenced particularly by the higher rate of chemical meningitis (p = 0.002) versus infectious meningitis (p = 0.132). Among 4 types of nonautologous grafts, there were differences in complication rates (p = 0.02), including chemical meningitis (p = 0.01) and postoperative nausea/vomiting (p = 0.03). Allograft demonstrated the lowest complication rates overall (14.3%) and yielded significantly fewer complications compared to bovine collagen (p = 0.02) and synthetic (p = 0.003) grafts. Synthetic graft yielded higher complication rates than autograft (p = 0.01). Autograft and nonautologous graft resulted in equal improvements in syrinx size (p < 0.0001). No differences were found for postoperative changes in headaches or neck pain. CONCLUSIONS: In the largest multicenter cohort to date, complication rates for dural autograft and nonautologous graft are similar after PFDD for CM-I/SM, although nonautologous graft results in higher rates of pseudomeningocele and meningitis. Rates of meningitis differ among nonautologous graft types. Autograft and nonautologous graft are equivalent for reducing syrinx size, headaches, and neck pain.

Occipital-Cervical Fusion and Ventral Decompression in the Surgical Management of Chiari-1 Malformation and Syringomyelia: Analysis of Data From the Park-Reeves Syringomyelia Research Consortium.

BACKGROUND: Occipital-cervical fusion (OCF) and ventral decompression (VD) may be used in the treatment of pediatric Chiari-1 malformation (CM-1) with syringomyelia (SM) as adjuncts to posterior fossa decompression (PFD) for complex craniovertebral junction pathology. OBJECTIVE: To examine factors influencing the use of OCF and OCF/VD in a multicenter cohort of pediatric CM-1 and SM subjects treated with PFD. METHODS: The Park-Reeves Syringomyelia Research Consortium registry was used to examine 637 subjects with cerebellar tonsillar ectopia ≥ 5 mm, syrinx diameter ≥ 3 mm, and at least 1 yr of follow-up after their index PFD. Comparisons were made between subjects who received PFD alone and those with PFD + OCF or PFD + OCF/VD. RESULTS: All 637 patients underwent PFD, 505 (79.2%) with and 132 (20.8%) without duraplasty. A total of 12 subjects went on to have OCF at some point in their management (PFD + OCF), whereas 4 had OCF and VD (PFD + OCF/VD). Of those with complete data, a history of platybasia (3/10, P = .011), Klippel-Feil (2/10, P = .015), and basilar invagination (3/12, P < .001) were increased within the OCF group, whereas only basilar invagination (1/4, P < .001) was increased in the OCF/VD group. Clivo-axial angle (CXA) was significantly lower for both OCF (128.8 ± 15.3°, P = .008) and OCF/VD (115.0 ± 11.6°, P = .025) groups when compared to PFD-only group (145.3 ± 12.7°). pB-C2 did not differ among groups. CONCLUSION: Although PFD alone is adequate for treating the vast majority of CM-1/SM patients, OCF or OCF/VD may be occasionally utilized. Cranial base and spine pathologies and CXA may provide insight into the need for OCF and/or OCF/VD.

Factors associated with syrinx size in pediatric patients treated for Chiari malformation type I and syringomyelia: a study from the Park-Reeves Syringomyelia Research Consortium.

OBJECTIVE: Factors associated with syrinx size in pediatric patients undergoing posterior fossa decompression (PFD) or PFD with duraplasty (PFDD) for Chiari malformation type I (CM-I) with syringomyelia (SM; CM-I+SM) are not well established. METHODS: Using the Park-Reeves Syringomyelia Research Consortium registry, the authors analyzed variables associated with syrinx radiological outcomes in patients (< 20 years old at the time of surgery) with CM-I+SM undergoing PFD or PFDD. Syrinx resolution was defined as an anteroposterior (AP) diameter of ≤ 2 mm or ≤ 3 mm or a reduction in AP diameter of ≥ 50%. Syrinx regression or progression was defined using 1) change in syrinx AP diameter (≥ 1 mm), or 2) change in syrinx length (craniocaudal, ≥ 1 vertebral level). Syrinx stability was defined as a < 1-mm change in syrinx AP diameter and no change in syrinx length. RESULTS: The authors identified 380 patients with CM-I+SM who underwent PFD or PFDD. Cox proportional hazards modeling revealed younger age at surgery and PFDD as being independently associated with syrinx resolution, defined as a ≤ 2-mm or ≤ 3-mm AP diameter or ≥ 50% reduction in AP diameter. Radiological syrinx resolution was associated with improvement in headache (p < 0.005) and neck pain (p < 0.011) after PFD or PFDD. Next, PFDD (p = 0.005), scoliosis (p = 0.007), and syrinx location across multiple spinal segments (p = 0.001) were associated with syrinx diameter regression, whereas increased preoperative frontal-occipital horn ratio (FOHR; p = 0.007) and syrinx location spanning multiple spinal segments (p = 0.04) were associated with syrinx length regression. Scoliosis (HR 0.38 [95% CI 0.16-0.91], p = 0.03) and smaller syrinx diameter (5.82 ± 3.38 vs 7.86 ± 3.05 mm; HR 0.60 [95% CI 0.34-1.03], p = 0.002) were associated with syrinx diameter stability, whereas shorter preoperative syrinx length (5.75 ± 4.01 vs 9.65 ± 4.31 levels; HR 0.21 [95% CI 0.12-0.38], p = 0.0001) and smaller pB-C2 distance (6.86 ± 1.27 vs 7.18 ± 1.38 mm; HR 1.44 [95% CI 1.02-2.05], p = 0.04) were associated with syrinx length stability. Finally, younger age at surgery (8.19 ± 5.02 vs 10.29 ± 4.25 years; HR 1.89 [95% CI 1.31-3.04], p = 0.01) was associated with syrinx diameter progression, whereas increased postoperative syrinx diameter (6.73 ± 3.64 vs 3.97 ± 3.07 mm; HR 3.10 [95% CI 1.67-5.76], p = 0.003), was associated with syrinx length progression. PFD versus PFDD was not associated with syrinx progression or reoperation rate. CONCLUSIONS: These data suggest that PFDD and age are independently associated with radiological syrinx improvement, although forthcoming results from the PFDD versus PFD randomized controlled trial (NCT02669836, clinicaltrials.gov) will best answer this question.

Risk of failure in pediatric ventriculoperitoneal shunts placed after abdominal surgery.

OBJECTIVE Experience has led us to suspect an association between shunt malfunction and recent abdominal surgery, yet information about this potential relationship has not been explored in the literature. The authors compared shunt survival in patients who underwent abdominal surgery to shunt survival in our general pediatric shunt population to determine whether such a relationship exists. METHODS The authors performed a retrospective review of all cases in which pediatric patients underwent ventriculoperitoneal shunt operations at their institution during a 7-year period. Survival time in shunt operations that followed abdominal surgery was compared with survival time of shunt operations in patients with no history of abdominal surgery. Univariate and multivariate analyses were used to identify factors associated with failure. RESULTS A total of 141 patients who underwent 468 shunt operations during the period of study were included; 107 of these 141 patients had no history of abdominal surgery and 34 had undergone a shunt operation after abdominal surgery. Shunt surgery performed more than 2 weeks after abdominal surgery was not associated with time to shunt failure (p = 0.86). Shunt surgery performed within 2 weeks after abdominal surgery was associated with time to failure (adjusted HR 3.6, 95% CI 1.3-9.6). CONCLUSIONS Undergoing shunt surgery shortly after abdominal surgery appears to be associated with shorter shunt survival. When possible, some patients may benefit from shunt placement utilizing alternative termini.

Iatrogenic intradural arachnoid cyst following tethered cord release in a child.

Iatrogenic arachnoid cysts represent uncommon complications of intradural spinal procedures. Here we present the case of a 7-year-old girl who was found to have a symptomatic, pathologically proven, intradural arachnoid cyst 3 years following tethered cord release. The patient originally presented with abnormal urodynamics testing and was found to have fatty infiltration in her filum terminale. She underwent sectioning of the filum terminale without complications. The patient presented 3 years later with pain and neurogenic claudication. The patient was successfully treated with subarachnoid cyst fenestration with resolution of her bilateral lower extremity pain. Spinal intradural arachnoid cysts represent an important, though rare, postoperative complication of dural opening.

Proximal ventricular shunt malfunctions in children: Factors associated with failure.

Ventricular shunt failures and subsequent revisions are a significant source of patient morbidity. We conducted a review of pediatric patients undergoing placement or revision of ventricular shunts at our institution between January 2007 and December 2008. Patients were followed through to July 2014. Data collected included patient demographics, shunt history and indication for procedure, approach taken for shunt placement, and location of shunt tip in relation to the foramen of Monro. Univariate and multivariate analyses were conducted to identify factors associated with proximal failure. A total of 87 procedures were identified in 40 patients, consisting of 23 initial placements and 64 revisions. Thirty-nine proximal catheter malfunctions were identified. Indications for shunt placement included Chiari II malformation (33%) and intraventricular hemorrhage (33%). Mean follow-up period was 5.5 years. Median time to shunt failure was 1.57 years. In the multivariate model, younger age at placement was associated with decreased time to proximal failure (hazard ratio [HR]=0.80 per increasing year of age, 95% confidence interval [CI] 0.64-0.98). Both anterior approach (HR=0.39, 95% CI 0.23-0.67) and farther distance to foramen of Monro (HR=0.02 per increasing 10mm, 95% CI 0.00-0.22) were associated with increased time to proximal failure when the catheter tip was located within the contralateral lateral ventricle. Optimizing outcomes in patients with shunt-dependent hydrocephalus continues to be a challenge. Despite unsatisfactory outcomes, particularly in the pediatric population, few conclusions can be drawn from studies assessing operative variables.

Spinal cord detethering in children with tethered cord syndrome and Chiari type 1 malformations.

We discuss the association between tethered cord syndrome (TCS) and Chiari type 1 malformation (CM1), and report on the surgical outcomes of children with CM1 and TCS who underwent sectioning of the filum terminale (SFT). The relationship between TCS and CM1 is unclear. A retrospective review of 170 consecutive spinal cord detetherings between 2008 and 2012 was performed. We identified 17 children with CM1 who underwent SFT. Information regarding clinical presentation, radiographic findings, surgical procedures, and clinical outcomes was analyzed. A mean tonsillar herniation of 10.0mm (range: 5-21) was noted. Children with a fatty or thickened filum terminale demonstrated a greater amount of tonsillar displacement (p<0.005). A low conus medullaris was found in 12 children and a syrinx was present in three. The preoperative symptoms improved in all children. The postoperative MRI (mean 21.8 months) revealed an unchanged tonsillar position in all but one child. No worsening of neurologic function was noted. Pediatric patients who have both CM1 and TCS, but do not demonstrate classic Chiari-related symptoms, may experience symptomatic improvement after filum terminale sectioning.

Primary intracranial Ewing's sarcoma with unusual features.

Pediatric primary "small round blue cell" tumors in the CNS represent several entities, some more common than others. Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is rare and must be distinguished from other tumors such as medulloblastoma [1, 2], atypical rhabdoid/teratoid tumor, ependymomal tumors, metastatic sarcomas, hematologic malignancies, and other mimics. Although therapy for ES/pPNET is effective, it brings severe side effects, including cardiac toxicity, making correct recognition important [3]. As small blue cell tumors look similar, diagnosis often depends on special stains, immunohistochemistry, and molecular techniques. While the combination of membranous immunohistochemical reactivity for CD99 with cytoplasmic glycogen provides effective screening, demonstration of characteristic translocations of EWSR1 (chromosome 22) or FUS (chromosome 16) by fluorescent in situ hybridization (FISH) can confirm the diagnosis. We are reporting three primary ES/pPNET of the CNS, two of which occurred in children. While the adult case demonstrates the classic histopathology, the two pediatric cases have histopathology that significantly deviates from the usual. One is suggestive of a primary sarcoma, and the other mimics an ependymoma, but all three cases are confirmed with FISH. These observations suggest that primary ES in the CNS may have histology different from the classic morphology and a high index of suspicion should be maintained in order to make the correct diagnosis. A search of the literature suggests that these tumors are most frequently seen in children and young adults. Imaging often shows a supratentorial enhancing mass that touches the leptomeninges. Survival over three years is good but long term prognosis is unknown [3, 4].

Migration of a ventricular tapping reservoir into the third ventricle.

The authors present a case of migration of a ventricular tapping system into the third ventricle of a 6-year-old boy who is was born prematurely. As an infant, the patient was treated with serial lumbar punctures for hydrocephalus associated with intraventricular hemorrhage. The patient progressed to requiring a ventricular tapping reservoir and eventually a ventriculoperitoneal shunt. The patient presented for suspected shunt malfunction 4 years after placement of his ventriculoperitoneal shunt, and the migrated ventricular tapping system was discovered. The authors discuss several management strategies that could be used to prevent this complication.