Faculty Bibliography

BACKGROUND:Ventriculoatrial shunts can be afflicted with distal malfunctions due to thrombus formation at the distal tip. Distal tip thrombus formation may occur more commonly in oncologic patients who are predisposed to hypercoagulability. CASE DESCRIPTION/METHODS:A patient who had a ventriculo-atrial shunt placed for leptomeningeal carcinomatosis presented with headaches and confusion and was found to have a partial distal shunt obstruction. Intra-reservoir administration of alteplase resulted in resolution of her symptoms. Nuclear medicine shunt patency test demonstrated restoration of distal flow. CONCLUSIONS:Intra-reservoir administration of alteplase can be a useful non-operative treatment strategy for ventriculo-atrial shunt malfunction. This strategy may be particularly useful in cases with higher peri-operative risk, such as patients with advanced metastatic cancer.

INTRODUCTION: Liquid biopsy has the potential to revolutionize diagnosis and management of cancer. In brain tumors, detection of cell free tumor DNA (ctDNA) and circulating tumor cells (CTC) is challenging due to low level of the circulating material. We present a novel workflow for detection and capture of CTCs. METHODS: Peripheral blood was obtained from five pediatric patients with astrocytoma (n=2), ependymoma (n=1), dysembryoplastic neuroepithelial tumor (n=1), and medulloblastoma (n=1) at initial resection (n=3) and relapse (n=2). Samples were enriched using the Clear-Bridge ClearCell FX1 system and the suspension stained with antibodies against CD56 and CD45. Samples were analyzed using Silicon Biosystems DEPArray to capture single and pooled CTCs. CTCs were identified by CD56 positivity, while leukocytes were positive for CD45 and NK cells double-positive for CD56 and CD45. RESULTS: CTCs were identified in all 5 patient samples. The number of CD56-positive cells isolated from each sample ranged from 1 to 25 (mean 9). The CD56-positive cells were on average 11.8 mum in diameter (range 9.0-15.7 mum), and CD45-positive cells were on average 10.8 mum in diameter (range 8.9-15.9 mum). Single CTCs and CTC pools are amenable to molecular analysis after whole genome amplification. CONCLUSION: We report a novel integrated workflow for capturing CTCs in pediatric patients with brain tumors. While rare, CTCs circulate in peripheral blood of patients with brain tumors regardless of their grade and are amenable for molecular analysis. This method has the potential to serve as a non-invasive diagnostic and monitoring method for pediatric brain tumors

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.

IMPORTANCE/OBJECTIVE:Extracranial pituitary ectopia is an uncommon finding characterized by all or a portion of the pituitary gland situated in an aberrant location. Often these lesions come to clinical attention only once they begin to function abnormally or increase in size significantly. OBSERVATIONS/METHODS:We describe an incidentally noted, asymptomatic pedunculated nasopharyngeal lesion in a 13-month-old girl that may be an extracranial pituitary gland. Consideration of this rare anomaly cautioned against performing a biopsy and may have prevented inadvertent removal of functional pituitary tissue. We describe the embryologic origins of ectopic pituitary tissue, discuss the differential diagnosis for nasopharyngeal lesions in children, and emphasize physical and radiologic findings suggestive of ectopic pituitary tissue to prevent potential inadvertent removal of this rare anomaly. CONCLUSIONS AND RELEVANCE/CONCLUSIONS:We report this unusual case to review embryologic origins of ectopic pituitary tissue and to alert otolaryngologists of the need to consider ectopic pituitary tissue in the diagnosis of nasopharyngeal lesions in children.

Acquired cholesteatomas typically arise in the middle ear and mastoid cavities; they rarely present elsewhere. We describe a case of acquired cholesteatoma that presented as a large mass of the pars squamosa of the temporal bone in a 16-year-old girl. The mass was surgically removed without complication. To the best of our knowledge, this is only the second reported case of an acquired cholesteatoma in the lateral temporal bone.

PURPOSE/OBJECTIVE:Children and adolescents with epilepsy have an overrepresentation of psychiatric illness. However, few studies in pediatrics have characterized specific psychiatric conditions associated with seizure localization. In addition, degree to which psychiatric illness may be more prominent in children refractory to standard medical treatment for epilepsy is not known. The aim of this study was to assess psychiatric symptoms in children with medically refractory epilepsy and ascertain whether symptoms were associated with specific localization. METHODS:Case records were reviewed for 40 children with medically refractory epilepsy at the time of their referral for presurgical evaluation. Patients received a clinical psychiatric evaluation and parents completed the Child Behavioral Checklist (CBCL). Seizure localization was verified by pediatric epileptologists, and suitability for surgical procedures was verified by neurosurgical specialists. Groups were compared based on localization of seizure foci, either in the temporal lobe or predominantly extratemporal. KEY FINDINGS/RESULTS:The majority of the sample had psychiatric diagnoses and behavior problems, well beyond the level reported in chronic epilepsy populations. In addition, children with temporal lobe seizure foci had more CBCL behavioral problem categories rated in the clinically significant range, and also were more likely to have clinical diagnoses of depression. SIGNIFICANCE/CONCLUSIONS:Routine psychiatric evaluation prior to epilepsy surgery may be important for pediatric patients with medically refractory epilepsy. Psychiatric illness, particularly depression, may be especially prominent for those with temporal lobe seizure foci.

BACKGROUND:Intensive care unit admission following fronto-orbital advancement for craniosynostosis is routine at most institutions. The authors determined the frequency of postoperative events requiring intensive care unit care that justify this practice. METHODS:Infants with craniosynostosis who underwent primary fronto-orbital advancement at a single institution from 1997 to 2011 were included. Patient demographics, operative factors, and hemodynamic outcomes were recorded. Adverse postoperative events/interventions were graded as none (group I); minor (group II), easily managed on a surgical floor; or major (group III), requiring intensive care unit care. RESULTS:One hundred seven infants were included. Average length of hospitalization was 3.7 ± 1.6 days, with 1.3 ± 1.0 days in the intensive care unit and 2.4 ± 1.0 days on the floor. Seventy-eight patients (72.9 percent) were categorized into group I, 24 (22.4 percent) into group II, and five (4.7 percent) into group III. Major events/interventions included prolonged intubation (n = 2), reintubation (n = 2), and continuous positive airway pressure support (n = 1). Preexisting end-organ dysfunction was significantly associated with group III patients, who also had significantly higher intraoperative blood loss requiring greater resuscitation. Mean daily charges were $7652.33 (10.9 percent of total charges) for intensive care unit care and $2470.62 (6.9 percent of total charges) for floor care. CONCLUSIONS:In this study, 4.7 percent of patients had event/interventions requiring intensive care unit care after fronto-orbital advancement. Predictors included preexisting end-organ dysfunction and higher intraoperative blood loss requiring greater resuscitation. Financial savings from selective postoperative intensive care unit admission may not outweigh the potential cost of an emergent event on the surgical floor.

BACKGROUND:The severity and dysmorphology that results from the premature fusion of one or more cranial sutures is not uniform. Less striking phenotypes may be more easily missed on routine screening, possibly leading to delayed diagnosis and treatment. The purpose of this study was to compare the age at initial presentation for the different forms of craniosynostosis. METHODS:The authors reviewed the records of all patients who underwent open craniofacial repair of craniosynostosis at a single institution from 1996 to 2009. Relationships between type of suture fusion and age at initial consultation were compared. RESULTS:Two hundred eleven patients (136 males, 75 females) were identified. Indications included sagittal (n = 96), metopic (n = 39), unicoronal (n = 33), bicoronal (n = 24), multisutural (n = 15), bilambdoidal (n = 3), and unilambdoidal (n = 1) synostoses. Seventeen patients (8.1%) had a craniosynostosis syndrome and 5 (2.4%) had a syndrome or disorder not typically associated with craniosynostosis [X-linked hypophosphatemic rickets (n = 3), achondroplasia (n = 1), and Beckwith Wiedemann (n = 1)]. Median age at initial consultation was 4.1 months; there was no gender difference. Patients with X-linked hypophosphatemic rickets presented at a significantly older age than nonsyndromic patients or those with a known craniosynostosis syndrome. Those with multisutural synostosis presented at a significantly older age than patients with sagittal or bicoronal synostosis. CONCLUSIONS:Patients with multisutural involvement or X-linked hypophosphatemic rickets had a significant delay in presentation for craniosynostosis. The latter group of patients may especially benefit from routine surveillance for craniosynostosis given their advanced age at diagnosis.

OBJECT/OBJECTIVE:Rising numbers of MRI studies performed during evaluations for pediatric disorders have contributed to a significant increase in the number of incidentally found brain tumors. Currently, there is very little literature on the nature of and the preferred treatment for these incidental brain tumors. In this paper the authors review their experience diagnosing and treating these lesions in children as well as the current literature on this topic. METHODS:Records from 2 centers were reviewed for incidentally found brain tumors, treatment approaches, and outcomes for both surgical and nonsurgical cohorts. RESULTS:Forty-seven children (30 males and 17 females) with a mean age of 8.6 years were found to have incidental brain lesions suspected to be neoplasms. Twenty-five underwent surgery and 22 were observed. Two children in the observation group required surgery at a later stage. Tumor pathology in 24 patients was benign. Only 3 patients had high-grade tumors. All nonsurgically treated lesions were presumed to be low-grade tumors and were followed up for 25 ± 20 months. CONCLUSIONS:The discovery of incidental brain tumors on MRI in children poses an increasing challenge. Additional studies are needed to determine the significance as well as the optimal management strategies in this situation.