Papillary tumor of the pineal region in pediatric populations: An additional case and systematic review of a rare tumor entity.

Papillary tumors of the pineal region (PTPR) are a rare tumor entity first described in 2003, later codified in the 2007 WHO tumor classification system. PTPRs most commonly occur in the third and fourth decades, with exceedingly rare presentations in pediatric populations. Herein, we present an additional case of a 10-year-old female found to have PTPR in conjunction with Trisomy 21 managed successfully with cerebrospinal fluid diversion and gross total resection (GTR). Three years after resection she has returned to baseline without recurrence. We also performed a comprehensive review of the current literature discussing the diagnosis, treatment, and pathophysiologic correlations in children. Diagnosis and management of PTPRs is a topic that is increasingly garnering attention in the literature given the recent characterization of this tumor entity. However, relatively little is known about the presentation of PTPRs in pediatric populations. In adults, PTPRs have been linked with several chromosomal and genetic abnormalities; however this correlation is limited in pediatric literature. Although GTR is the mainstay for treatment, the application of adult treatment protocols may not be advisable due to age and the developmental changes of the CNS in children.

Symptomatic xanthogranuloma of the lateral ventricle in a pregnant patient treated with delayed resection: A case report and systematic review.

Intracranial xanthogranulomas (XG) are a rare benign histiocytic neoplasm and most often within the choroid. The majority are asymptomatic and are found incidentally on imaging or post-mortem examination or autopsy. We present a case of symptomatic XG in a pregnant patient who underwent a delayed transcortical, transventricular approach for lateral ventricle XG resection following the completion of her pregnancy. Four years post-operatively, the patient is neurologically intact and without recurrence. Our review of the literature showed differences among XG depending on location. The clinical and radiological features of XG are often indistinguishable from tumors arising from the choroid plexus and should be considered as a rare etiology in the differential of newly diagnosed intraventricular lesions.

Pleomorphic Xanthoastrocytoma of the Pineal Region in a Pediatric Patient With Neurofibromatosis Type 1.

Background: Pleomorphic xanthoastrocytoma (PXA) is a rare and often focal glioma that most commonly affects children and young adults. Lesions are preferentially supratentorial and superficial, although infratentorial masses have been described, along with occasional involvement of the leptomeninges. The World Health Organization (WHO) categorizes these tumors as grade II, with surgical resection carrying a favorable prognosis. However, these tumors may undergo malignant degeneration and must be identified for appropriate treatment and prognosis. PXA has been associated with neurofibromatosis type 1 (NF1), although it is not the classic phenotype of NF1. We present a novel report of PXA, atypically located in the pineal region of a patient with a history of NF1. Case Report: A 17-year-old male with a history of NF1 presented with 1 month of bifrontal headaches. Magnetic resonance imaging was significant for a heterogeneous tectal mass, suspicious for a glioma extending to the fourth ventricle and causing displacement of the cerebral aqueduct without obstructive hydrocephalus. Following an infratentorial-supracerebellar approach for tumor resection, histopathology confirmed a low-grade variable neoplasm consistent with PXA. Postoperative imaging confirmed gross total resection with no evidence of recurrence at 9 months postoperatively. Conclusion: To our knowledge, this case is the fifth report of pineal PXA and the first associated with NF1. Because PXA presents similarly to other NF1-related intracranial tumors, careful diagnosis via immunohistochemistry is imperative. Gross tumor resection is usually curative; however, PXA has the propensity to undergo malignant degeneration and may require adjuvant treatment.

Adult Pineal Region Atypical Teratoid Rhabdoid Tumor: A Case for Aggressive Surgical and Chemoradiation Management with Comprehensive Literature Review.

BACKGROUND: Atypical teratoid rhabdoid tumor (ATRT) is a rare, highly malignant central nervous system neoplasm classified as an embryonal grade IV neoplasm by the World Health Organization. ATRT generally occurs in children younger than 3 years, with 85 pathologically confirmed cases reported in adults. It is most commonly supratentorial, with only 9 confirmed adult cases localized to the pineal region. CASE DESCRIPTION: The case is described of a 29-year-old man with a history of chronic migraines and a previously negative computed tomography scan of the head presenting with worsening headaches and new-onset diplopia with upward gaze palsy. Computed tomography and magnetic resonance imaging showed a hemorrhagic pineal mass with extension into the right thalamus. After resection, the immunohistochemical staining and cytogenetic profile proved consistent with ATRT, making it the ninth reported case of pineal ATRT in an adult, which was treated aggressively with good outcome. CONCLUSIONS: Adult ATRT is rare, especially in the pineal region, with only 9 cases reported. Because of the aggressiveness, ATRT must be considered in the differential diagnosis of pineal region lesions because early diagnosis and aggressive treatment are key to prolonged survival.

"Two-Birds-One-Stone" Approach for Treating an Infant with Chiari I Malformation and Hydrocephalus: Is Cerebrospinal Fluid Diversion as Sole Treatment Enough?

BACKGROUND: Chiari I malformation (CIM) is a disorder characterized by caudal displacement of the cerebellar tonsils below the foramen magnum. It is often associated with syringomyelia and occasionally with hydrocephalus. CIM is commonly treated by posterior fossa decompression with or without removal of the posterior arch of C1 and duraplasty, but the treatment for infants with symptomatic CIM is not well established. We present a case of symptomatic CIM in an infant that was successfully treated with a ventriculoperitoneal shunt (VPS) and discuss the importance of the pathophysiology in management decisions. CASE DESCRIPTION: A 6-month-old male with a CIM and a cervicothoracic syrinx presented with stridor, lower cranial nerve dysfunction, and increased tone that worsened with crying. Magnetic resonance imaging studies revealed cerebellar tonsillar displacement extending to the level of C3-C4 with a syrinx extending from C4 to T4. In addition, there was compression of the cervicomedullary junction, fourth ventricular outflow obstruction, and obstructive hydrocephalus. The decision was made to place a ventriculoperitoneal shunt (VPS) instead of performing decompressive surgery as the initial treatment intervention. The infant had significant symptomatic relief at 6-, 9-, and 12-month follow-ups. Postoperative magnetic resonance imaging at 6-month follow-up revealed resolution of the syrinx and ventriculomegaly and ascent of the cerebellar tonsils. CONCLUSIONS: Ventriculoperitoneal shunting alone was successfully used to treat an infant with concurrent CIM, syrinx, and hydrocephalus. This case underscores not only the importance of hydrocephalus as the pathogenesis of CIM in some cases but also the possibility of avoiding the morbidity of decompressive surgery in infants.

Response assessment of meningioma: 1D, 2D, and volumetric criteria for treatment response and tumor progression.

BACKGROUND: Meningiomas are the most common primary brain tumors in adults. Due to their variable growth rates and irregular tumor shapes, response assessment in clinical trials remains challenging and no standard criteria have been defined. We evaluated 1D, 2D, and volume imaging criteria to assess whether a volumetric approach might be a superior surrogate for overall survival (OS). METHODS: In this retrospective multicenter study, we evaluated the clinical and imaging data of 93 patients with recurrent meningiomas treated with pharmacotherapy. One-dimensional (1D), 2D, and volumetric measurements of enhancing tumor on pre- and post-treatment MRI were compared at 6 and 12 months after treatment initiation. Cox proportional hazards models were used to examine the relationship between each imaging criterion and OS. RESULTS: The median age of the patient cohort is 51 years (range 12-88), with 14 World Health Organization (WHO) grade I, 53 WHO grade II, and 26 WHO grade III meningiomas. Volumetric increase of 40% and unidimensional increase by 10 mm at 6 months and 12 months provided the strongest association with overall survival (HR = 2.58 and 3.24 respectively, p<0.01). Setting a volume change threshold above 40% did not correlate with survival. The interobserver agreement of 1D, 2D, and volume criteria is only moderate (kappa = 0.49, 0.46, 0.52, respectively). None of the criteria based on tumor size reduction were associated with OS (P > 0.09). CONCLUSION: Compared with 1D (Response Evaluation Criteria In Solid Tumors 1.1) and 2D (Response Assessment in Neuro-Oncology) approaches, volumetric criteria for tumor progression has a stronger association with OS, although the differences were only modest. The interobserver variability is moderate for all 3 methods. Further validation of these findings in an independent patient cohort is needed.

Deep brain stimulation for the treatment of childhood dystonic cerebral palsy.

OBJECT: Deep brain stimulation (DBS) for dystonic cerebral palsy (CP) has rarely been reported, and its efficacy, though modest when compared with that for primary dystonia, remains unclear, especially in the pediatric population. The authors present a small series of children with dystonic CP who underwent bilateral pallidal DBS, to evaluate the treatment's efficacy and safety in the pediatric dystonic CP population. METHODS: The authors conducted a retrospective review of patients (under the age of 18 years) with dystonic CP who had undergone DBS of the bilateral globus pallidus internus between 2010 and 2012. Two of the authors independently assessed outcomes using the Barry-Albright Dystonia Scale (BADS) and the Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFMDRS-M). RESULTS: Five children were diagnosed with dystonic CP due to insults occurring before the age of 1 year. Mean age at surgery was 11 years (range 8-17 years), and the mean follow-up was 26.6 months (range 2-42 months). The mean target position was 20.6 mm lateral to the midcommissural point. The mean preoperative and postoperative BADS scores were 23.8 ± 4.9 (range 18.5-29.0) and 20.0 ± 5.5 (range 14.5-28.0), respectively, with a mean overall percent improvement of 16.0% (p = 0.14). The mean preoperative and postoperative BFMDRS-M scores were 73.3 ± 26.6 (range 38.5-102.0) and 52.4 ± 21.5 (range 34.0-80.0), respectively, with a mean overall percent improvement of 28.5% (p = 0.10). Those stimulated at least 23 months (4 patients) improved 18.3% (p = 0.14) on the BADS and 30.5% (p = 0.07) on the BFMDRS-M. The percentage improvement per body region yielded conflicting results between rating scales; however, BFMDRS-M scores for speech showed some of the greatest improvements. Two patients required hardware removal (1 complete system, 1 unilateral electrode) within 4 months after implantation because of infections that resolved with antibiotics. CONCLUSIONS: All postoperative dystonia rating scale scores improved with pallidal stimulation, and the greatest improvements occurred in those stimulated the longest. The results were modest but comparable to findings in other similar series. Deep brain stimulation remains a viable treatment option for childhood dystonic CP, although young children may have an increased risk of infection. Of particular note, improvements in the BFMDRS-M subscores for speech were comparable to those for other muscle groups, a finding not previously reported.