Placement of EVD in pediatric posterior fossa tumors: safe and efficient or old-fashioned? The Vienna experience.

PURPOSE: The perioperative treatment of hydrocephalus in pediatric posterior fossa tumors with an external ventricular drain (EVD) is the treatment of choice in our center. We analyzed our experience in using EVD concerning safety and effectivity. METHODS: This is a single-center retrospective cohort study of 100 consecutive pediatric patients who underwent resection for a newly diagnosed tumor in the posterior fossa between 2011 and 2022. RESULTS: Of the 100 patients with posterior fossa tumors, 80 patients (80%) had radiological signs of hydrocephalus at presentation, 49 patients (49%) of whom underwent placement of an EVD. In 40 patients, the EVD was inserted at a mean of 2.25 days prior to the tumor resection; 9 had the EVD inserted during tumor resection (frontal trajectory in 7 patients, occipital trajectory in 2 patients). Histology revealed pilocytic astrocytoma in 48 patients, medulloblastoma in 32, ependymoma in 11, and other histologic entities in 9 patients. Gross total/near-total resection was achieved in 46 (95.83%) of the 48 pilocytic astrocytomas, 30 (93.75%) of the 32 medulloblastomas, and 11 (100%) of the 11 ependymomas. The mean number of total days with the EVD in place was 8.61 ± 3.82 (range 2-16 days). The mean number of days with an EVD after tumor resection was 6.35 ± 3.8 (range 0-16 days). EVD-associated complications were seen in 6 patients (12.24%) including one infection. None of these resulted in a worse clinical course or any long-term sequelae. Permanent CSF diversion at 6 months after surgery was necessary in 13 patients (13%), including two VP shunt, two SD-shunt, six endoscopic third ventriculostomy (ETV), and three combined VP shunt and ETV procedures. Patients with a medulloblastoma or ependymoma had a higher rate of permanent CSF diversion needed than the group of pilocytic astrocytoma patients (27.9% versus 2.13%, p < 0.001). In patients with metastatic disease, 7 of 17 patients (41.18%) needed a permanent CSF diversion, compared to 6 of 83 patients (7.23%) in the group without metastasis (p = 0.001). CONCLUSION: The treatment of hydrocephalus in pediatric posterior fossa tumors with an EVD as a temporary measure is safe and effective, provided that a multi-professional understanding for its handling is given and there is no need for a long transport of the children.

Fahr's disease associated with anaplastic ependymoma: a case report and review of the literature.

Fahr's disease, also known as familial idiopathic basal ganglia calcification or bilateral strio-pallido-dentate calcinosis, is a rare entity characterized by abnormal vascular calcium depositionin the thalamus, basal ganglia, cerebral cortex and the dentate nuclei of the cerebellum. Intracranial ependymomas comprise approximately 2% to 9% of all neuroepithelial tumors. It is reported that supratentorial ependymoma constitute 30% to 50% of all intracranial ependymal tumors. Among supratentorial ependymomas, approximately 50% of them are located extraventricular and demonstrate no relationship with the ventricularsystem.The association of brain tumor with Fahr's disease is a rare entity and has been reported several times before. Whereas, to best our knowledge, the association of Fahr's disease and supratentorial anaplastic ependymoma is described in the present study for the first time.

Impact of tumor-associated syrinx on outcomes following resection of primary ependymomas of the spinal cord.

PURPOSE: To interrogate the association of tumor-associated syrinxes with postoperative neurological and oncological outcomes in patients surgically treated for WHO grade 2 spinal ependymomas. METHODS: Adults treated for primary spinal intramedullary ependymomas between 2000 and 2020 were identified and data were gathered on preoperative neurological exam, radiographic characteristics, operative details, and postoperative neurological outcome. Neurological status was graded on the modified McCormick Scale (MMS). Neurological worsening immediately postoperatively and at last follow-up were defined by ≥ 1 MMS grade deterioration. Decision-tree analyses were also performed to identify independent predictors of new neurological deficits. RESULTS: Seventy patients were identified; mean age 45.4 ± 12.7; 60% male. Forty-eight patients (68.6%) had tumor-associated syrinxes, were more common among males (68.8%) and cervical lesions (68.8 vs. 31.8%; P = 0.005). Postoperatively patients with syrinxes had better MMS (P = 0.035) and were less likely to require a gait aid (39.6 vs. 81.8; P = 0.002). This latter difference persisted to last follow-up (22.9 vs. 59.1%; P = 0.006). On decision-tree analysis the strongest predictors of long-term neurological worsening were advanced age (≥ 63 years) and worse baseline neurological function. Worsened neurological status in the immediate postoperative period was best predicted by thoracic localization, the presence of a hemosiderin cap, and longer craniocaudal extension. CONCLUSION: For spinal ependymomas, tumor-associated syrinxes may portend decreased risk for immediate postoperative neurologic deficits but do not predict long-term neurological outcomes (MMS) or odds of successful gross total resection. Thoracic localization appears to best predict new immediate postoperative deficits, and worse baseline neurological function and advanced age best predict long-term deficits.

Anatomical Limitation of Posterior Spinal Myelotomy for Intramedullary Hemorrhage Associated with Ependymoma or Cavernous Malformation of the High Cervical Spine.

Spinal intramedullary tumors such as ependymoma or vascular lesions such as cavernous malformation are often at risk of intramedullary hemorrhage. Surgical procedures involving the high cervical spinal cord are often challenging. This technical note included four patients who presented with acute, subacute, or gradual onset of spinal cord dysfunction associated with intramedullary hemorrhage at the C1 or C1/2 level of the high cervical spine. The mean age was 46.3 years (16-74 years). All patients underwent posterior spinal cord myelotomy of the posterior median sulcus or posterolateral sulcus. It was not to exceed the caudal opening of the fourth ventricle (foramen of Magendie) and was assumed to be as high as the caudal medulla oblongata. Total removal of the intramedullary ependymoma or cavernous malformation occurred in three of four cases, and the remaining case had subtotal removal of the ependymoma. None of the patients showed postoperative deterioration of the neurological condition. Pathological examination of all cases revealed intramedullary hemorrhage was associated with ependymoma or cavernous malformation. Posterior spinal myelotomy should be limited to the caudal opening of the fourth ventricle (foramen of Magendie), that is the caudal medulla oblongata, to avoid the significant deterioration after surgery.

Severe Pneumonia Caused by Methicillin-Resistant Staphylococcus pseudintermedius in an Oncology Patient: Case Report and Literature Review.

Staphylococcus pseudintermedius is usually a commensal bacterium of microbiota of dogs and cats that can become pathogenic in these animals. In the past two decades, an increasing number of human infections caused by this pathogen was reported; only two pediatric cases were due to methicillin-susceptible isolates. We describe the first case of methicillin-resistant S. pseudintermedius diagnosed in a 12-year-old immunocompromised girl with refractory anaplastic ependymoma, presented with life-threatening pneumonia and bacteremia. The girl had close contact with her two pet dogs. This case emphasizes that immunocompromised children should be advised on proper handling of household pets to minimize the risk of infection, which could be life threatening.

Bevacizumab as a surgery-sparing agent for spinal ependymoma in patients with neurofibromatosis type II: Systematic review and case.

Neurofibromatosis type 2 (NF2) is a rare, hereditary tumor syndrome, often requiring repeated surgeries for multiple lesions with significant cumulative morbidity. As such, non-operative management should be considered when possible for this patient population. The aim of this study is to provide a systematic review of the literature regarding this treatment strategy. A descriptive case of a patient in whom bevacizumab treatments enabled over 15 years of surgical postponement for a symptomatic spinal cord ependymoma is also provided. Evidence suggests that bevacizumab is a reasonable surgery-deferring option for cystic lesions, and it may be especially useful in NF2 patients to reduce cumulative morbidity.

RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report.

INTRODUCTION: Down syndrome (DS) is the most common multiple malformation syndrome in humans and is associated with an increased risk of childhood malignancy, particularly leukemia. Incidence of brain tumors in patients with DS is limited to sporadic cases. We report the first case of a RELA fusion-positive ependymoma in a 3-year-old boy with DS. CASE PRESENTATION: Imaging prompted by new left-sided hemiparesis demonstrated an 8-cm hemorrhagic right temporal-parietal mass. Subsequent image-complete resection confirmed a RELA fusion-positive anaplastic ependymoma with 90% OLIG2 staining. Postoperatively, the patient, unfortunately, experienced fatal recurrence and drop metastases with leptomeningeal involvement. CONCLUSION: To our knowledge, this is the first reported case of a confirmed RELA fusion-positive ependymoma in a child with DS. We discuss this finding in the context of intracranial tumors in children with DS, as well as the finding of 90% positive OLIG2 expression and its potential as a prognostic marker.

Increased Intracranial Pressure Without Hydrocephalus Associated With Spinal Cord Tumor: Literature Review.

ABSTRACT: Spinal cord tumors (SCTs) may rarely cause increased intracranial pressure without hydrocephalus (IICPWH). A review of the English literature published after 1970 revealed 29 cases of IICPWH secondary to SCT. The following data were acquired: demographics, tumor characteristics, ophthalmic and neurological manifestations, and cerebral spinal fluid (CSF) features. We summarize the existing literature regarding various theories of pathophysiology, spinal imaging recommendations, and treatment modalities used in managing such patients. Patients with papilledema who also have neurological signs or symptoms of myelopathy or elevated CSF protein particularly in the setting of an atypical demographic for pseudotumor cerebri should raise a suspicion for a spinal tumor and prompt further investigation with a spinal MRI.

Supratentorial pediatric cortical ependymomas: a comprehensive retrospective study.

Pediatric cortical ependymomas (CEs) are rare; the clinical features and optimal treatment remain ill-defined. We aimed to clarify the clinical characteristics and outcome of pediatric CEs based on institutional series and literature review. Thirteen children with CEs from our department were included in the present study. Furthermore, a search of English language peer-reviewed articles yielded 43 patients with CEs. The clinical data, treatment, and outcome were retrospectively reviewed and statistically analyzed. Our institutional series consisted of nine males and four females. The literature review yielded 56 pediatric CE cases (including ours) for further analysis. Of these 56 cases, frontal lobe (n = 19, 41.3%) was the most common location and most of the tumors were located in the right hemisphere (n = 27, 58.7%). Seizures (n = 23, 41.1%) were the most frequent preoperative symptoms. Thirty patients (n = 30, 53.6%) were WHO grade II. Five continuous patients in our series screened for C11orf95-RELA fusion and all the patients (100%) were RELA fusion positive. Fourteen (26.4%) patients experienced tumor recurrence and 4 (7.5%) patients died during the follow-up. Multivariate survival analysis depicted extent of surgery resection was the only prognostic factor for PFS and patient with gross total resection (P = 0.037, HR 3.682, 95% CI 1.082-13.79) had longer PFS. Furthermore, Log-rank testing for Kaplan-Meier survival analysis showed the extent of surgery resection (P = 0.007) was the only prognostic factor for OS. Pediatric CEs are rare, commonly seen in frontal lobe and right hemisphere. Seizures are the most common symptoms. They may have higher rate of RELA fusions, but favorable outcome. A low incidence of anaplastic histology has been depicted. Gross total resection is significantly associated with longer PFS and OS. Careful follow-up is necessary because the tumors may progress.

Metastatic myxopapillary ependymoma treated with immunotherapy achieving durable response.

Myxopapillary ependymoma (MPE) is a rare glial tumour mainly located in the areas of the conus medullaris, cauda equina and filum terminale of the spinal cord. Ectopic MPE tends to behave more aggressively and distant metastases are often seen. Unfortunately, no standard treatment options are established as only small series of treated patients and a few reported cases are available in the literature. We report the case of a 25-year-old woman who was initially diagnosed with a metastatic MPE, with multiple bilateral lung metastases. She was treated with an investigational monoclonal antibody antiprogrammed cell death protein 1, called tislelizumab (BGB-A317), following surgical resection of the perisacral primary mass. The response was long-lasting and side effects nil. Immunotherapy is a treatment modality to be considered in patients with rare tumours.

Ependimoma intracraneal: apuntes clínicos, moleculares y anatomopatológicos / Intracranial ependymoma: clinical, molecular and pathological notes

RESUMEN Los ependimomas surgen de las células ependimarias que revisten los ventrículos y los pasajes en el encéfalo y el centro de la médula espinal. Las células ependimarias producen líquido cefalorraquídeo. Se decidió la realización de una revisión acerca del ependimoma intracraneal teniendo en cuenta que no existe artículo nacional que trate este tema, siendo la mayoría de los trabajos consultados referentes a la misma variante histológica pero en localización espinal, cuyo objetivo es describir la características clínicas, moleculares y anatomopatológicas del ependimoma intracraneal. Se realizó la búsqueda de artículos en revistas de las bases de datos: PubMed, Scielo y EBSCO. La búsqueda se limitó a artículos con el texto completo, publicados fundamentalmente en los últimos cinco años. El ependimoma intracraneal es un tumor frecuente en la edad pediátrica, sus manifestaciones clínicas dependen de su localización, presenta una gran diversidad molecular y anatomoptológica (AU).

SUMMARY Ependymomas arise from ependymal cells that line the ventricles and passages in the brain and center of the spinal cord. Ependymal cells produce cerebrospinal fluid. It was decided to conduct a review about intracranial ependymoma taking into account that there is no national article dealing with this issue, with most of the works consulted referring to the same histological variant but in spinal location, whose objective is to describe the clinical characteristics, Molecular and pathological pathways of intracranial ependymoma. We searched articles in journals of the databases: PubMed, Scielo and EBSCO. The search was limited to articles with the full text, published mainly in the last five years. Intracranial ependymoma is a frequent tumor in the pediatric age, its clinical manifestations depend on its location, it has a great molecular and anatomoptological diversity (AU).

First-Onset Hypokalemic Periodic Paralysis Following Surgery for Myxopapillary Ependymoma.

BACKGROUND: Hypokalemic periodic paralysis is a rare skeletal muscle channelopathy characterized by intermittent episodes of acute flaccid paralysis with associated hypokalemia. We present here the case of a first-onset hypokalemic periodic paralysis triggered by lumbar spinal surgery for tumor resection. CASE DESCRIPTION: A 37-year-old male without any known prior medical conditions presented with a first-onset attack of hypokalemic paralysis 1.5 days after lumbar spinal surgery for myxopapillary ependymoma. Initially, the patient presented paraparesis mimicking a spinal cord compression, and while en route for imaging there was an abrupt onset of flaccid paralysis with significant respiratory distress. The emergency blood tests revealed extreme hypokalemia with a serum potassium of 1.42 mm/L. The patient was transferred to the intensive care unit, intubated, sedated, and administered intravenous reperfusion with an infusion dose of 20 mEq/hour potassium in a solution of 5% mannitol. Following reperfusion, the patient recovered completely in 12 hours. Renal potassium hyperexcretion and hyperthyroidism were excluded by laboratory tests. The diagnosis was confirmed by genetic tests showing mutation of the CACNA1S gene. CONCLUSIONS: To the best of our knowledge, this is the first described case with the first onset triggered by a neurosurgical intervention and the second case following any kind of surgery. Neurosurgeons should consider hypokalemic periodic paralysis when encountering a rapidly evolving tetraparesis, even in an apparently healthy patient.

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation. To the best of our knowledge, the concurrent occurrence of familial cavernous malformations and ependymoma has not been previously reported in the literature. Herein, we describe a patient with familial cerebral cavernous malformation syndrome and posterior fossa ependymoma. A 17-year-old asymptomatic male was referred to our outpatient neurosurgery clinic after genetic testing identified a familial KRIT1 (CCM1) mutation. The patient's sister had presented with a seizure disorder previously; multiple cavernous malformations were discovered, and a symptomatic large cavernous malformation required a craniotomy for resection. Two years later, she was diagnosed with follicular thyroid cancer due to HRAS (c.182A>G) mutation. The patient and his sister were found to have a novel germline KRIT1 disease-causing variant (c.1739deletion, p.ASN580Ilefs*2) and a variant of uncertain significance, potentially pathogenic (c.1988 A>G, p.Asn663Ser) in cis in CCM1 (KRIT1), of paternal inheritance. Due to the presence of genetic abnormalities, the patient underwent screening imaging of his neuraxis. Multiple cavernous malformations were identified, as was an incidental fourth ventricular mass. Resection of the fourth ventricular lesion was performed, and histopathological examination was consistent with ependymoma. We report a unique case of posterior fossa ependymoma in an individual with a familial cerebral cavernous malformation syndrome and a novel genetic abnormality in KRIT1. The association of these two findings may be valuable in determining a potential genetic association between the two pathologies and elucidating the pathogenesis of both cavernous malformations and ependymomas.

Ten-Segment Intramedullary Ependymoma and Whole Spinal Syringomyelia.

BACKGROUND: Ten-segment intramedullary tumors are rare lesions in adults. CASE DESCRIPTION: In this report, we describe the case of a 30-year-old woman who presented with a 2-year history of right lower limb numbness. Spinal magnetic resonance imaging showed an expansive 10-segment intramedullary lesion and syringomyelia. The final pathologic tests confirmed World Health Organization grade II ependymoma. She received a successful gross total tumorectomy with no obvious surgical-related complications. CONCLUSIONS: The postoperative recovery is far beyond our expectations.

Myxopapillary ependymoma of cauda equina presented with communicating hydrocephalus and papilloedema: A case report.

We reported a case of cauda equina myxopapillary ependymoma in a patient who presented with atypical history of progressive blurring of vision. Ophthalmology examination revealed relative afferent pupillary defect, binasal hemianopia and papilloedema. This case report serves as a reminder that the intraspinal tumour could be a cause of papilloedema, despite rare, should be considered in a hydrocephalus patient who presented with no intracranial pathology and minimal spinal symptoms.

Cysts associated with intramedullary ependymomas of the spinal cord: clinical, MRI and oncological features.

PURPOSE: Few published articles have explicitly focused on cysts associated with intramedullary (IM) ependymomas. The objective was to assess the clinical, MRI, and oncological results of patients operated for an IM ependymoma associated with a cystic portion. METHODS: During the study period, 23 IM tumors resected were cystic ependymomas. The modified McCormick scale was used to assess the neurological function of patients. The diagnosis of cystic spinal cord tumor was made on preoperative MRI. RESULTS: Two types of cysts were identified according to their location: either intra-tumoral cysts (ITC) or satellite cysts (SC). ITC (52.2%) were more frequent than SC (21.7%), but 26.1% of patients presented both. ITC were enhanced by gadolinium while SC were not. The solid portion of ependymomas with ITC was significantly larger than the one of ependymomas with SC (p = 0.002). The mean time to the first occurrence of symptoms was significantly shorter in patients with neurological deficit than those without a deficit (p = 0.04). GTR was achieved in 78.2% of cases. Complete excision of the cysts was easier when they were larger (p = 0.006). Sixty percent of cysts disappear postoperatively. Persistence of satellite cysts despite GTR of the tumor, and with no recurrence of a tumor on the post-operative MRI, was observed for 3 patients. CONCLUSION: ITC and SC are different in location, volume, gadolinium enhancement. Their surgical management is different since ITC are resected while SC are drained. Cystic recurrence and/or persistence are not synonymous with tumor recurrence.

Report of a case of giant cell ependymoma with unusual clinical and pathological presentation.

Giant cell ependymoma (GCE) is a very uncommon variant of ependymoma, known for having varying degrees of nuclear pleomorphism. There are only 34 reported cases of GCE in the English literature. We describe an additional case of a young woman who presented with a tumor located in sacral soft tissue, which was not connected to the spinal cord and did not show additional lesions in the central nervous system. Complete tumor resection was performed and no recurrences or metastasis were detected after 5 months of follow-up. Only one of all the reported GCE was located in the sacral subcutaneous region, where ependymomas are rarely found and usually have myxopapillary histology. Ours is the second report showing microscopic features of GCE in the soft-tissue region. GCE should be considered in the differential diagnosis of lumbosacral subcutaneous tumors to avoid misdiagnosing it as a malignant lesion. Since GCE could be an extraspinal extension of an intraneural ependymoma, it would be important to evaluate whether it is connected to the spinal cord.