Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.

PURPOSE: Patients with congenital central hypoventilation syndrome (CCHS) have autonomic dysfunction and lack ventilatory responses to hypoxemia and hypercarbia and thus are prone to adverse events during general anesthesia. The objective of this study was to describe the perioperative outcomes of patients with CCHS who were undergoing diaphragm pacer (DP) implantation surgeries under general anesthesia. METHODS: A retrospective cohort study was conducted on patients with CCHS who underwent DP implantation surgeries at CHLA between January 2000 and May 2016. Charts were reviewed for demographics, PHOX2B genotype, ventilatory support, comorbidities, anesthesia administered, and perioperative courses. RESULTS: Of 19 patients with CCHS (58% female) mean age at surgeries was 8.6 ± 5.8 years. Seventeen patients were ventilator-dependent during sleep only; two were ventilator dependent 24 h per day. Mean surgery duration was 3.1 ± 0.5 h. Seventeen patients were extubated to PPV via tracheostomy in the OR. Two patients were extubated to NPPV on postoperative day (POD) 1. Mean transition time to home ventilator or NPPV was 3.0 ± 2.2 days, and mean hospital stay was 5.0 ± 2.1 days. One patient premedicated without ventilatory support developed hypoxemia and hypoventilation. Ten patients (52%) had intraoperative events such as bradycardia, hypotension, significant hypoxemia, and bronchospasm. Fifteen patients had postoperative events. Hypoxemia, pneumonia, and atelectasis accounted for most of perioperative complications. One patient experienced seizure on POD 2 due to hypercarbia. CONCLUSION: Patients with CCHS are vulnerable to the cardiorespiratory effects of sedative and anesthetic agents. Therefore, they require vigilant monitoring and optimal ventilatory support in the perioperative period.

Early Ophthalmology Findings in Nonsyndromic Craniosynostosis.

Craniosynostosis (CS) occurs 1 in 2500 births and surgical intervention is indicated partly due to risk for elevated intracranial pressure (EICP). Ophthalmological examinations help identify EICP and additional vision concerns. This study describes preoperative and postoperative ophthalmic findings in CS patients (N=314) from chart review. Patients included nonsyndromic CS: multisuture (6.1%), bicoronal (7.3%), sagittal (41.4%), unicoronal (22.6%), metopic (20.4%), and lambdoidal (2.2%). Preoperative ophthalmology visits were at M =8.9±14.1 months for 36% of patients and surgery was at M =8.3±4.2 months. Postoperative ophthalmology visits were at age M =18.7±12.6 months for 42% with follow-up at M =27.1±15.1 months for 29% of patients. A marker for EICP was found for a patient with isolated sagittal CS. Only a third of patients with unicoronal CS had normal eye exams (30.4%) with hyperopia (38.2%) and anisometropia (16.7%) at higher rates than the general population. Most children with sagittal CS had normal exams (74.2%) with higher than expected hyperopia (10.8%) and exotropia (9.7%). The majority of patients with metopic CS had normal eye exams (84.8%). About half of patients with bicoronal CS had normal eye exams (48.5%) and findings included: exotropia (33.3%), hyperopia (27.3%), astigmatism (6%), and anisometropia (3%). Over half of children with nonsyndromic multisuture CS had normal exams (60.7%) with findings of: hyperopia (7.1%), corneal scarring (7.1%), exotropia (3.6%), anisometropia (3.6%), hypertropia (3.6%), esotropia (3.6%), and keratopathy (3.6%). Given the range of findings, early referral to ophthalmology and ongoing monitoring is recommended as part of CS care.

A portable multi-sensor module for monitoring external ventricular drains.

External ventricular drains (EVDs) are used clinically to relieve excess fluid pressure in the brain. However, EVD outflow rate is highly variable and typical clinical flow tracking methods are manual and low resolution. To address this problem, we present an integrated multi-sensor module (IMSM) containing flow, temperature, and electrode/substrate integrity sensors to monitor the flow dynamics of cerebrospinal fluid (CSF) drainage through an EVD. The impedimetric sensors were microfabricated out of biocompatible polymer thin films, enabling seamless integration with the fluid drainage path due to their low profile. A custom measurement circuit enabled automated and portable sensor operation and data collection in the clinic. System performance was verified using real human CSF in a benchtop EVD model. Impedimetric flow sensors tracked flow rate through ambient temperature variation and biomimetic pulsatile flow, reducing error compared with previous work by a factor of 6.6. Detection of sensor breakdown using novel substrate and electrode integrity sensors was verified through soak testing and immersion in bovine serum albumin (BSA). Finally, the IMSM and measurement circuit were tested for 53 days with an RMS error of 61.4 µL/min.

Usefulness of postoperative ventriculography and intracranial pressure monitoring following endoscopic third ventriculostomy.

PURPOSE: The authors sought to determine whether the insertion of an external ventricular drain (EVD) at the time of surgery to monitor intracranial pressure (ICP) and ventriculography done within the first day following an endoscopic third ventriculostomy (ETV) is of benefit in postoperative patient management. METHODS: Following IRB approval, ETV procedures done by the senior author between January 1, 2007, and December 31, 2016, were reviewed. Included in a consecutive fashion were all patients who underwent an ETV with placement of an external ventricular drain (EVD) that was preceded preoperatively by an MRI or CT study and followed by a contrast CT ventriculogram within the first postoperative day. RESULTS: Identified were 72 patients who met the above criteria; however, technical ventriculography failure occurred in 4 (6%) and were eliminated from the analysis. Of the remaining 68 patients, contrasted CSF was seen in the basal cisterns/subarachnoid spaces (SAS) in 66 (97%) indicating a patent ETV and absent in 2 (3%) indicating a non-patent ETV. Of the 66 patients with a patent ETV, 34 (52%) patients were discharged on postoperative days 1 (8), 2 (13), and 3 (13) as their ICPs were not elevated and their clinical symptoms normal. EVDs placed at the time of the ETV recorded raised ICP > 20 cm H2O in 17/68 (25%) patients for 1 or more days, all of whom had a patent ETV. Because of persistently elevated ICP requiring CSF drainage for control, 4 of these patients were shunted on postoperative days 5, 6, 6, and 10 and 3 with prolonged elevated ICP for 5, 6, and 11 days postoperatively were not shunted as their ICP and symptoms progressively normalized. The remaining 17/68 (25%) patients did not have a postoperative ICP > 20 cm H2O; 14 were discharged after resolution of symptoms and other clinical factors, 1 was shunted on postoperative day 3 due to persistent symptoms and a consistently large volume of CSF drainage, and 2 had a non-patent ETV with 1 undergoing shunt placement and the other discharged because of the absence of symptoms. The sensitivity of ventriculography was only 13%; however, the specificity was 98% and the accuracy 88%. CONCLUSION: After reviewing this series, the continued use of a postoperative EVD appears appropriate as the risk is low and it provides ventricular access to control ICP, thereby, improving patients' safety and reducing the need for CSF shunting on an urgent/emergent basis should the ETV prove to be unsuccessful. From our limited series, the usefulness of a 1-day postoperative ETV ventriculogram is less clear and would need confirmation with additional studies.

A new MRI tag-based method to non-invasively visualize cerebrospinal fluid flow.

PURPOSE: Abnormal cerebrospinal fluid (CSF) dynamics can produce a number of significant clinical problems to include hydrocephalus, loculated areas within the ventricles or subarachnoid spaces as well as impairment of normal CSF movement between the cranial and spinal compartments that can result in a cerebellar ectopia and hydrosyringomyelia. Thus, assessing the patency of fluid flow between adjacent CSF compartments non-invasively by magnetic resonance imaging (MRI) has definite clinical value. Our objective was to demonstrate that a novel tag-based CSF imaging methodology offers improved contrast when compared with a commercially available application. METHODS: In a prospective study, ten normal healthy adult subjects were examined on 3T magnets with time-spatial labeling inversion pulse (Time-SLIP) and a new tag-based flow technique-time static tagging and mono-contrast preservation (Time-STAMP). The image contrast was calculated for dark-untagged CSF and bright-flowing CSF. We tested the results with the D'Agostino and Pearson normality test and Friedman's test with Dunn's multiple comparison correction for significance. Separately 96 pediatric patients were evaluated using the Time-STAMP method. RESULTS: In healthy adults, contrasts were consistently higher with Time-STAMP than Time-SLIP (p < 0.0001, in all ROI comparisons). The contrast between untagged CSF and flowing tagged CSF improved by 15 to 34%. In both healthy adults and pediatric patients, CSF flow between adjacent fluid compartments was demonstrated. CONCLUSIONS: Time-STAMP provided images with higher contrast than Time-SLIP, without diminishing the ability to visualize qualitative CSF movement and between adjacent fluid compartments.

Proteus Syndrome With a Cranial Intraosseous Lipoma.

Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. This finding established a clinical diagnosis of Proteus syndrome. Given the size of the tumor, producing an extensive deformity, three-dimensional modeling was used to generate a three-dimensional printed implant. The process to achieve a successful outcome is herein described.

Parylene MEMS patency sensor for assessment of hydrocephalus shunt obstruction.

Neurosurgical ventricular shunts inserted to treat hydrocephalus experience a cumulative failure rate of 80 % over 12 years; obstruction is responsible for most failures with a majority occurring at the proximal catheter. Current diagnosis of shunt malfunction is imprecise and involves neuroimaging studies and shunt tapping, an invasive measurement of intracranial pressure and shunt patency. These patients often present emergently and a delay in care has dire consequences. A microelectromechanical systems (MEMS) patency sensor was developed to enable direct and quantitative tracking of shunt patency in order to detect proximal shunt occlusion prior to the development of clinical symptoms thereby avoiding delays in treatment. The sensor was fabricated on a flexible polymer substrate to eventually allow integration into a shunt. In this study, the sensor was packaged for use with external ventricular drainage systems for clinical validation. Insights into the transduction mechanism of the sensor were obtained. The impact of electrode size, clinically relevant temperatures and flows, and hydrogen peroxide (H2O2) plasma sterilization on sensor function were evaluated. Sensor performance in the presence of static and dynamic obstruction was demonstrated using 3 different models of obstruction. Electrode size was found to have a minimal effect on sensor performance and increased temperature and flow resulted in a slight decrease in the baseline impedance due to an increase in ionic mobility. However, sensor response did not vary within clinically relevant temperature and flow ranges. H2O2 plasma sterilization also had no effect on sensor performance. This low power and simple format sensor was developed with the intention of future integration into shunts for wireless monitoring of shunt state and more importantly, a more accurate and timely diagnosis of shunt failure.

Infection rate correlated with time to repair of open neural tube defects (myelomeningoceles): an institutional and national study.

BACKGROUND: The optimal time to closure of a newborn with an open neural tube defect (NTD-myelomeningocele) has been the subject of a number of investigations. One aspect of timing that has received attention is its relationship to repair site and central nervous system (CNS) infection that can lead to irreversible deficits and prolonged hospital stays. No studies have evaluated infection as a function of surgical timing at a national level. We hypothesized an increase in wound infection in those patients with delays in myelomeningocele repair when evaluated in both a single-center and national database. METHODS: Treatment outcomes following documented times to transfer and closure were evaluated at Children's Hospital of Los Angeles (CHLA) for the years 2004 to 2014. Data of newborns with a myelomeningocele with varying time to repair were also obtained from non-overlapping abstracts of the 2000-2010 Kids' Inpatient Database (KID) and Nationwide Inpatient Sample (NIS). Poisson multivariable regression analyses were used to assess the effect of time to repair on infection and time to discharge. RESULTS: At CHLA, 95 neonates who underwent myelomeningocele repair were identified, with a median time from birth to treatment of 1 day. Six (6 %) patients were noted to have postrepair complications. CHLA data was not sufficiently powered to detect a difference in infection following delay in closure. In the NIS, we identified 3775 neonates with repaired myelomeningocele of whom infection was reported in 681 (18 %) patients. There was no significant difference in rates of infection between same-day and 1-day wait times (p = 0.22). Wait times of two (RR = 1.65 [1.23, 2.22], p < 0.01) or more days (RR = 1.88 [1.39, 2.54], p < 0.01), respectively, experienced a 65 % and 88 increase in rates of infection compared to same-day procedures. Prolonged wait time was 32 % less likely at facilities with increased myelomeningocele repair volume (RR = 0.68 [0.56 0.83], p < 0.01). The presence of infection was associated with a 54 % (RR = 1.54 [1.36, 1.74], p < 0.01) increase in the length of stay when compared to neonates without infection. CONCLUSION: Myelomeningocele closure, when delayed more than 1 day after birth, is associated with an increased rate of infection and length of stay in the national cohort. High-volume centers are associated with fewer delays to repair. Though constrained by limitations of a national coded database, these results suggest that early myelomeningocele repair decreases the rate of infection.

Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients.

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting central control of breathing. Thus, patients require lifelong assisted ventilation. Diaphragm pacing (DP) may permit decannulation in those who are ventilator dependent only during sleep. OBJECTIVE: The purpose of this study is to determine if patients with CCHS can be successfully ventilated by DP without tracheostomy. METHODS: We reviewed the records of 18 CCHS patients (mean age 19.5 ± 10.1 years; 44% female) who were ventilated by DP only during sleep. RESULTS: Prior to diaphragm pacer implantation surgery, 14 CCHS patients had been using home portable positive pressure ventilation (PPV) via tracheostomy, 1 had been on PPV via endotracheal tube, and 3 had been using noninvasive PPV (NPPV). Of the patients with tracheostomy prior to DP (n = 15), 11 (73%) were decannulated and ventilated successfully by DP without tracheostomy. Of all the patients reviewed (n = 18), 13 (72%) were successfully ventilated by DP without tracheostomy. Obesity prevented successful DP without tracheostomy in 1 patient, and upper airway obstruction prevented success in another patient. Snoring and/or obstructive apneas were present in some patients, but they were improved by diaphragm pacer changes, adenotonsillectomy, and/or use of nasal steroids. CONCLUSIONS: DP without tracheostomy can be successfully achieved in patients with CCHS. Snoring and obstructive apneas, when present, can be managed by diaphragm pacer changes and medical therapies. Obesity can pose a challenge to successful DP.

A practical clinical classification of spinal neural tube defects.

Current commonly used terminology to describe neural tube defects (NTD) is inconsistent, overlapping, contradictory and, at times, inaccurate making it difficult to convey the nature of the malformation and what needs to be done to optimally treat patients with these congenital abnormalities.NTD can be broadly divided into those that are open with exposed neural tissue and leaking cerebrospinal fluid (CSF) and those that are closed with no exposed neural tissue nor loss of CSF. It appears that the loss of CSF during development is the underlying factor that leads to the entire central nervous system involvement with an open NTD and lack thereof with a closed NTD, wherein only the spinal cord is malformed. There are, however, rare transitional cases that bridge the gap between the two forms.Agreeing on a nomenclature that is used in a standard fashion would be of help in addressing this group of congenital anomalies that have a great deal of variability and, at times, can be quite complex.

Intracranial hypertension after surgical correction for craniosynostosis: a systematic review.

OBJECT The authors' aim was perform a systematic review on the incidence of intracranial hypertension (IH) after surgery for craniosynostosis. METHODS A systematic literature review was conducted using PubMed to assess the rate of postoperative IH in studies published between 1985 and 2014. Inclusion criteria were 1) English-language literature; 2) human subjects; 3) pediatric cases; and 4) postoperative IH confirmed with invasive intracranial pressure monitoring. RESULTS Seven studies met inclusion criteria. IH was reported to be present in 5% of patients postoperatively with sagittal synostosis and 4% of patients with all forms of nonsyndromic craniosynostosis. Inadequate numbers were available to determine the incidence of postoperative IH for syndromic and individual nonsyndromic sutural synostosis based on the inclusion criteria. Surgical groups were subdivided into cranial remodeling procedures without orbital advancement and craniofacial procedures with orbital advancement. IH was reported to be present in 5% of patients with all forms of nonsyndromic sutural stenosis after cranial remodeling procedures and 1% after craniofacial advancement. CONCLUSIONS Postoperative development of elevated intracranial pressure has been described by multiple institutions, but the variation in how IH is determined and the multiple surgical procedures to correct craniosynostosis has limited the number of studies subject to a meta-analysis. Nonetheless, this entity deserves special attention, and further studies are required to determine the true incidence of postoperative IH, including the role of various surgical procedures on its incidence. The long-term consequences of chronic IH in this group of patients also need to be evaluated.

Surgical management of pediatric spinal aneurysmal bone cysts: patient series.

BACKGROUND: Aneurysmal bone cysts (ABCs) are rare, highly vascular osteolytic bone lesions that predominantly affect pediatric populations. This report evaluates the clinicopathological data of pediatric patients with spinal ABCs. The medical records for all patients at Children's Hospital Los Angeles with biopsy-proven ABCs of the spine between 1998 and 2018 were evaluated. OBSERVATIONS: Seventeen patients, 6 males and 11 females, were identified. The mean age at surgery was 10.4 years (range, 3.5-20 years). The most common presenting complaint was pain at the lesion site 16/17 (94%), followed by lower-extremity weakness 8/17 (47%). Resection and intralesional curettage were performed in all patients. Three (18%) of 17 patients underwent selective arterial embolization prior to resection. Spinal stability was compromised in 15 of 17 patients (88%), requiring instrumented fusion. Five (29%) of the 17 patients received additional therapy including radiation, calcitonin-methylprednisolone, or phenol. Four (23.5%) of 17 patients experienced a recurrence, and the mean time to recurrence was 15 months. The postoperative follow-up ranged from 6 to 108 months (median, 28 months). Reoperation occurred after an average of 35 months. At the recent follow-up, patients were free of disease. LESSONS: Gross-total resection by intralesional curettage with case-dependent instrumented spinal fusion for instability remains an effective strategy for managing pediatric spinal ABCs. Long-term follow-up is necessary to detect tumor recurrence.

Quantitative noninvasive measurement of cerebrospinal fluid flow in shunted hydrocephalus.

OBJECTIVE: Standard MRI protocols lack a quantitative sequence that can be used to evaluate shunt-treated patients with a history of hydrocephalus. The objective of this study was to investigate the use of phase-contrast MRI (PC-MRI), a quantitative MR sequence, to measure CSF flow through the shunt and demonstrate PC-MRI as a useful adjunct in the clinical monitoring of shunt-treated patients. METHODS: The rapid (96 seconds) PC-MRI sequence was calibrated using a flow phantom with known flow rates ranging from 0 to 24 mL/hr. Following phantom calibration, 21 patients were scanned with the PC-MRI sequence. Multiple, successive proximal and distal measurements were gathered in 5 patients to test for measurement error in different portions of the shunt system and to determine intrapatient CSF flow variability. The study also includes the first in vivo validations of PC-MRI for CSF shunt flow by comparing phase-contrast-measured flow rate with CSF accumulation in a collection burette obtained in patients with externalized distal shunts. RESULTS: The PC-MRI sequence successfully measured CSF flow rates ranging from 6 to 54 mL/hr in 21 consecutive pediatric patients. Comparison of PC-MRI flow measurement and CSF volume collected in a bedside burette showed good agreement in a patient with an externalized distal shunt. Notably, the distal portion of the shunt demonstrated lower measurement error when compared with PC-MRI measurements acquired in the proximal catheter. CONCLUSIONS: The PC-MRI sequence provided accurate and reliable clinical measurements of CSF flow in shunt-treated patients. This work provides the necessary framework to include PC-MRI as an immediate addition to the clinical setting in the noninvasive evaluation of shunt function and in future clinical investigations of CSF physiology.

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.

The safety of the intraoperative sacrifice of the deep cerebral veins.

BACKGROUND: The effect of surgically ligating the deep cerebral veins is often thought to be of significant risk. That concern and the paucity of information on surgery of the deep venous system confound surgical decision making when operations involve manipulation of the deep cerebral veins. DISCUSSION: The authors review the human and animal literature on the selective sacrifice of the deep cerebral veins. Robust experimental studies and limited clinical experience indicate that occlusion of one or several deep cerebral veins is generally safe.

Closed neural tube defects in children with caudal regression.

INTRODUCTION: Infants born with caudal regression (CR) may have serious multisystem abnormalities that require prompt attention in the neonatal period. The presence of a closed neural tube defect (NTD) that can lead to future neurological deterioration may be overlooked. MATERIALS AND METHODS: An IRB-approved retrospective review was conducted among patients with CR and a closed NTD that underwent neurosurgical operative intervention between 1996 and 2012 at a single institution. RESULTS: Twenty-two patients who met the above criteria were identified. Of this group, 13 were identified and surgically addressed in the first year of life; however, nine additional children were diagnosed with a closed NTD after a year of age with progressive neurological deterioration. Of the entire group, none had any cutaneous markers that are often seen with a closed NTD. CONCLUSION: The frequent finding of a closed NTD associated with major CR abnormalities, even in the absence of any cutaneous markers for dysraphism, recommends that infants with CR undergo a MRI screening in early infancy to exclude the presence of a closed NTD.

Congenital dermal sinus with an infected dermoid cyst in the cervico-thoracic spinal cord.

Congenital dermal sinuses (CDS) are epithelium-lined tracts that result from incomplete separation of cutaneous ectoderm from the underlying neuroectoderm. CDS may be associated with dermoid cysts and can cause complications by mass effect and by functioning as a pathway for infection. Cervical and thoracic tracts are rare, making up 1 and 10% of all CDS, respectively. We present an unusual case of a cervico-thoracic CDS with concomitant infected dermoid leading to neurological dysfunction. A 1-year-old male with a normal developmental history presented with a several-week history of progressive weakness. Previous visits to two outside emergency departments diagnosed the patient with acute otitis media. After another episode of fever and worsening of neurological symptoms, the patient was correctly diagnosed as having CDS with an infected dermoid cyst. Antibiotics were initiated, the lesion was resected, and the patient improved neurologically. Although cervical and thoracic CDS with infected dermoids are rare, one should have a high index of suspicion when cutaneous stigmata of spinal dysraphism are identified. Due to the risk of neurological deterioration, the recommended treatment of CDS with or without a concomitant intraspinal dermoid is prompt administration of antibiotics and definitive surgical intervention.

Eliminating the need for manual segmentation to determine size and volume from MRI. A proof of concept on segmenting the lateral ventricles.

Manual segmentation, which is tedious, time-consuming, and operator-dependent, is currently used as the gold standard to validate automatic and semiautomatic methods that quantify geometries from 2D and 3D MR images. This study examines the accuracy of manual segmentation and generalizes a strategy to eliminate its use. Trained individuals manually measured MR lateral ventricles images of normal and hydrocephalus infants from 1 month to 9.5 years of age. We created 3D-printed models of the lateral ventricles from the MRI studies and accurately estimated their volume by water displacement. MRI phantoms were made from the 3D models and images obtained. Using a previously developed artificial intelligence (AI) algorithm that employs four features extracted from the images, we estimated the ventricular volume of the phantom images. The algorithm was certified when discrepancies between the volumes-gold standards-yielded by the water displacement device and those measured by the automation were smaller than 2%. Then, we compared volumes after manual segmentation with those obtained with the certified automation. As determined by manual segmentation, lateral ventricular volume yielded an inter and intra-operator variation up to 50% and 48%, respectively, while manually segmenting saggital images generated errors up to 71%. These errors were determined by direct comparisons with the volumes yielded by the certified automation. The errors induced by manual segmentation are large enough to adversely affect decisions that may lead to less-than-optimal treatment; therefore, we suggest avoiding manual segmentation whenever possible.

Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.

BACKGROUND: Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li-Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT patients treated at Children's Hospital Los Angeles (CHLA) over a 20-year period, with particular attention to the association of CPT with LFS. METHODS: A retrospective evaluation of the course of therapy and clinical outcome was undertaken on the 42 patients diagnosed with and treated for CPT at CHLA from January 1991 to December 2010. Any association with multiple primary tumors and family histories consistent with LFS was investigated in all patients. RESULTS: Six of the 42 patients (16.7%), demonstrated either phenotypic and/or genotypic characteristics consistent with LFS, with either a distinct family history of cancer, a synchronous diagnosis of a different type of cancer, or the subsequent development of metachronous cancers. Of 11 patients with choroid plexus carcinoma tested for TP53 germline mutations, four (36.4%) were positive. A single patient with a choroid plexus papilloma had phenotypic characteristics of LFS but tested negative for TP53. CONCLUSIONS: Children with CPC appear to have a high frequency of TP53 germline mutations in association with LFS. This raises the question whether all children with CPC should be tested for TP53 germline mutations in order to institute screening to enhance early detection and treatment of subsequent cancers.

Accurate image-based CSF volume calculation of the lateral ventricles.

The size/volume of the brain's ventricles is essential in diagnosing and treating many neurological disorders, with various forms of hydrocephalus being some of the most common. Initial ventricular size and changes, if any, in response to disease progression or therapeutic intervention are monitored by serial imaging methods. Significant variance in ventricular size is readily noted, but small incremental changes can be challenging to appreciate. We have previously reported using artificial intelligence to determine ventricular volume. The values obtained were compared with those calculated using the inaccurate manual segmentation as the "gold standard". This document introduces a strategy to measure ventricular volumes where manual segmentation is not employed to validate the estimations. Instead, we created 3D printed models that mimic the lateral ventricles and measured those 3D models' volume with a tuned water displacement device. The 3D models are placed in a gel and taken to the magnetic resonance scanner. Images extracted from the phantoms are fed to an artificial intelligence-based algorithm. The volumes yielded by the automation must equal those yielded by water displacement to assert validation. Then, we provide certified volumes for subjects in the age range (1-114) months old and two hydrocephalus patients.