Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.
James S. Waldron, Steven W. Hetts, Jennifer Armstrong-Wells, Christopher F. Dowd, Heather J. Fullerton, Nalin Gupta and Michael T. Lawton
Richard C. E. Anderson, Michael M. McDowell, Christopher P. Kellner, Geoffrey Appelboom, Samuel S. Bruce, Ivan S. Kotchetkov, Raqeeb Haque, Neil A. Feldstein, E. Sander Connolly Jr., Robert A. Solomon, Philip M. Meyers and Sean D. Lavine
Conventional cerebral angiography and treatment for ruptured arteriovenous malformations (AVMs) in children are often performed in a delayed fashion. In adults, current literature suggests that AVM-associated aneurysms may be more likely to hemorrhage than isolated AVMs, which often leads to earlier angiography and endovascular treatment of associated aneurysms. The nature of AVM-associated aneurysms in the pediatric population is virtually unknown. In this report, the authors investigate the relationship of associated aneurysms in a large group of children with AVMs.
Seventy-seven pediatric patients (≤ 21 years old) with AVMs were treated at the Columbia University Medical Center between 1991 and 2010. Medical records and imaging studies were retrospectively reviewed, and associated aneurysms were classified as arterial, intranidal, or venous in location. Clinical presentation and outcome variables were compared between children with and without AVM-associated aneurysms.
A total of 30 AVM-associated aneurysms were found in 22 children (29% incidence). Eleven were arterial, 9 intranidal, and 10 were venous in location. There was no significant difference in the rate of hemorrhage (p = 0.91) between children with isolated AVMs (35 of 55 [64%]) and children with AVM-associated aneurysms (13 of 22 [59%]). However, of the 11 children with AVM-associated aneurysms in an arterial location, 10 presented with hemorrhage (91%). An association with hemorrhage was significant in univariate analysis (p = 0.045) but not in multivariate analysis (p = 0.37).
Associated aneurysms are present in nearly a third of children with AVMs, and when arterially located, are more likely to present with hemorrhage. These data suggest that early angiography with endovascular treatment of arterial-based aneurysms in children with AVMs may be indicated.
Michael M. H. Yang, Ash Singhal, Shahrad Rod Rassekh, Stephen Yip, Patrice Eydoux and Christopher Dunham
The authors describe an infant girl who, at 10 months of age, presented with a large right parietooccipital tumor causing increased intracranial pressure, mass effect, and midline shift. The tumor was completely resected, and the entirety of the histology was consistent with glioblastoma. She was subsequently placed on adjuvant high-dose chemotherapy consisting of carboplatin, vincristine, and temozolomide, according to Head Start III, Regimen C. Three months after the complete resection, tumor recurrence was noted on MR imaging, during the third cycle of chemotherapy, and biopsy revealed malignant astrocytoma. Given the recurrence and the patient's intolerance to chemotherapy, a palliative course was pursued. Unexpectedly, the patient was alive and had made significant developmental improvements 18 months into palliation. Subsequently, however, signs of increased intracranial pressure developed and imaging demonstrated a very large new tumor growth at the site of prior resection. The recurrence was again fully resected, but microscopy surprisingly revealed pleomorphic xanthoastrocytoma throughout. The clinicopathological and genetic features of this girl's unusual neoplasm are detailed and potential pathogenic hypotheses are explored in this report.
Michael Safaee, Michael C. Oh, Praveen V. Mummaneni, Philip R. Weinstein, Christopher P. Ames, Dean Chou, Mitchel S. Berger, Andrew T. Parsa and Nalin Gupta
Ependymomas are a common type of CNS tumor in children, although only 13% originate from the spinal cord. Aside from location and extent of resection, the factors that affect outcome are not well understood.
The authors performed a search of an institutional neuropathology database to identify all patients with spinal cord ependymomas treated over the past 20 years. Data on patient age, sex, clinical presentation, symptom duration, tumor location, extent of resection, use of radiation therapy, surgical complications, presence of tumor recurrence, duration of follow-up, and residual symptoms were collected. Pediatric patients were defined as those 21 years of age or younger at diagnosis. The extent of resection was defined by the findings of the postoperative MR images.
A total of 24 pediatric patients with spinal cord ependymomas were identified with the following pathological subtypes: 14 classic (Grade II), 8 myxopapillary (Grade I), and 2 anaplastic (Grade III) ependymomas. Both anaplastic ependymomas originated in the intracranial compartment and spread to the spinal cord at recurrence. The mean follow-up duration for patients with classic and myxopapillary ependymomas was 63 and 45 months, respectively. Seven patients with classic ependymomas underwent gross-total resection (GTR), while 4 received subtotal resection (STR), 2 received STR as well as radiation therapy, and 1 received radiation therapy alone. All but 1 patient with myxopapillary ependymomas underwent GTR. Three recurrences were identified in the Grade II group at 45, 48, and 228 months. A single recurrence was identified in the Grade I group at 71 months. The mean progression-free survival (PFS) was 58 months in the Grade II group and 45 months in the Grade I group.
Extent of resection is an important prognostic factor in all pediatric spinal cord ependymomas, particularly Grade II ependymomas. These data suggest that achieving GTR is more difficult in the upper spinal cord, making tumor location another important factor. Although classified as Grade I lesions, myxopapillary ependymomas had similar outcomes when compared with classic (Grade II) ependymomas, particularly with respect to PFS. Long-term complications or new neurological deficits were rare. Among patients with long-term follow-up, those who underwent GTR had a recurrence rate of 20% compared with 40% among those with STR or biopsy only, suggesting that extent of resection is perhaps a more important prognostic factor than histological grade in predicting PFS, which has been suggested by other data in the literature. Given the relative paucity of these lesions, collaborative multiinstitutional studies are needed, and such efforts should also focus on molecular and genetic analysis to refine the current classification system.
Paul M. Arnold
Jason S. Cheng, Michael E. Ivan, Christopher J. Stapleton, Alfredo Quinones-Hinojosa, Nalin Gupta and Kurtis I. Auguste
Intraoperative dorsal column mapping, transcranial motor evoked potentials (TcMEPs), and somatosensory evoked potentials (SSEPs) have been used in adults to assist with the resection of intramedullary spinal cord tumors (IMSCTs) and to predict postoperative motor deficits. The authors sought to determine whether changes in MEP and SSEP waveforms would similarly predict postoperative motor deficits in children.
The authors reviewed charts and intraoperative records for children who had undergone resection for IMSCTs as well as dorsal column mapping and TcMEP and SSEP monitoring. Motor evoked potential data were supplemented with electromyography data obtained using a Kartush microstimulator (Medtronic Inc.). Motor strength was graded using the Medical Research Council (MRC) scale during the preoperative, immediate postoperative, and follow-up periods. Reductions in SSEPs were documented after mechanical traction, in response to maneuvers with the cavitational ultrasonic surgical aspirator (CUSA), or both.
Data from 12 patients were analyzed. Three lesions were encountered in the cervical and 7 in the thoracic spinal cord. Two patients had lesions of the cervicomedullary junction and upper spinal cord. Intraoperative MEP changes were noted in half of the patients. In these cases, normal polyphasic signals converted to biphasic signals, and these changes correlated with a loss of 1–2 grades in motor strength. One patient lost MEP signals completely and recovered strength to MRC Grade 4/5. The 2 patients with high cervical lesions showed neither intraoperative MEP changes nor motor deficits postoperatively. Dorsal columns were mapped in 7 patients, and the midline was determined accurately in all 7. Somatosensory evoked potentials were decreased in 7 patients. Two patients each had 2 SSEP decreases in response to traction intraoperatively but had no new sensory findings postoperatively. Another 2 patients had 3 traction-related SSEP decreases intraoperatively, and both had new postoperative sensory deficits that resolved. One additional patient had a CUSA-related SSEP decrease intraoperatively, which resolved postoperatively, and the last patient had 3 traction-related sensory deficits and a CUSA-related sensory deficit postoperatively, none of which resolved.
Intraoperative TcMEPs and SSEPs can predict the degree of postoperative motor deficit in pediatric patients undergoing IMSCT resection. This technique, combined with dorsal column mapping, is particularly useful in resecting lesions of the upper cervical cord, which are generally considered to be high risk in this population. Furthermore, the spinal cord appears to be less tolerant of repeated intraoperative SSEP decreases, with 3 successive insults most likely to yield postoperative sensory deficits. Changes in TcMEPs and SSEP waveforms can signal the need to guard against excessive manipulation thereby increasing the safety of tumor resection.
Evan S. Marlin, John J. Entwistle, Michael A. Arnold, Christopher R. Pierson and Lance S. Governale
Spinal vascular malformations are rare vascular lesions that most frequently present with back pain, radiculopathy, and/or myelopathy. Neurological decline is typically secondary to progressive radiculopathy, myelopathy, venous thrombosis, and stroke. Few case reports have described thoracolumbar spinal vascular malformations that present with both subarachnoid and intraventricular hemorrhage. This is the first reported case of a thoracolumbar spinal vascular malformation presenting with isolated intraventricular hemorrhage on initial imaging followed by acute and fatal rehemorrhage.
Christopher P. Kellner, Michael M. McDowell, Michelle Q. Phan, E. Sander Connolly, Sean D. Lavine, Philip M. Meyers, Daniel Sahlein, Robert A. Solomon, Neil A. Feldstein and Richard C.E. Anderson
The significance of draining vein anatomy is poorly defined in pediatric arteriovenous malformations (AVMs). In adult cohorts, the presence of fewer veins has been shown to lead to an increased rate of hemorrhage, but this phenomenon has not yet been studied in pediatric AVMs. This report analyzes the impact of draining vein anatomy on presentation and outcome in a large series of pediatric AVMs.
Eighty-five pediatric patients with AVMs were treated at the Columbia University Medical Center between 1991 and 2012. Charts were retrospectively reviewed for patient characteristics, clinical course, neurological outcome, and AVM angioarchitectural features identified on the angiogram performed at presentation. Univariate analyses were performed using chi-square test and ANOVA when appropriate; multivariate analysis was performed using logistic regression.
Four patients were excluded due to incomplete records. Twenty-seven patients had 2 or 3 draining veins; 12 (44.4%) of these patients suffered from hemorrhage prior to surgery. Fifty-four patients had 1 draining vein; 39 (72.2%) of these 54 suffered from hemorrhage. Independent predictors of hemorrhage included the presence of a single draining vein (p = 0.04) and deep venous drainage (p = 0.02). Good outcome (modified Rankin Scale [mRS] score < 3) on discharge was found to be associated with higher admission Glasgow Coma Scale (GCS) scores (p = 0.0001, OR 0.638, 95% CI 0.40–0.93). Poor outcome (mRS score > 2) on discharge was found to be associated with deep venous drainage (p = 0.04, OR 4.68, 95% CI 1.1–19.98). A higher admission GCS score was associated with a lower discharge mRS score (p = 0.0003, OR 0.6, 95% CI 0.46–0.79), and the presence of a single draining vein was associated with a lower mRS score on long-term follow-up (p = 0.04, OR 0.18, 95% CI 0.032–0.99).
The authors' data suggest that the presence of a single draining vein or deep venous drainage plays a role in hemorrhage risk and ultimate outcome in pediatric AVMs. Small AVMs with a single or deep draining vein may have the highest risk of hemorrhage.