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McKenzie Koss, R. Michael Scott, Mira B. Irons, Edward R. Smith and Nicole J. Ullrich

Object

Children with neurofibromatosis Type 1 (NF1) can present with progressive arteriopathy of the branches of the internal carotid artery consistent with moyamoya syndrome. Clinical symptoms, radiographic evidence of ischemia, and the potential for disease progression may necessitate surgical revascularization to minimize the risk of stroke and progressive neurological deficits. This study aims to evaluate the presentation and surgical outcomes of these patients by reviewing clinical, radiographic, and angiographic data.

Methods

A retrospective review was conducted of clinical and radiographic records of all children with NF1 who were diagnosed with moyamoya syndrome and underwent surgical revascularization between January 1988 and April 2012 at Boston Children's Hospital.

Results

During this period, 39 patients (27 female and 12 male, ages 0.2–19.3 years) had both NF1 and moyamoya syndrome, of whom 32 underwent surgical revascularization with pial synangiosis. Of the 32 patients treated by surgical revascularization, 21 (66%) manifested ischemic symptoms and 18 (56%) had radiographic evidence of prior stroke at the time of moyamoya diagnosis. In total, 25 of 32 patients developed neurological symptoms prior to surgical intervention. Only 1 patient presented with hemorrhage. The average age at first surgery was 8.1 years (range 0.5–15.6 years). Perioperative complications in the first 7 days included stroke (n = 2), transient ischemic attack (n = 1), and infection (n = 1). Twenty-two patients had more than 6 months of follow-up, with an average clinical and radiographic postoperative follow-up period of 80.2 months (range 9.4–257.1 months). Of those patients with long-term follow-up, 21 (95%) of 22 demonstrated stable or improved neurological status despite radiographic evidence of moyamoya progression in 48% of patients.

Conclusions

Children with NF1-associated moyamoya syndrome are often diagnosed prior to development of fixed neurological deficits as a consequence of imaging studies obtained for other manifestations of NF1. The clinical, radiographic, and angiographic features in this population are comparable to primary moyamoya disease, with the exception of patients treated with cranial irradiation, who may be at greater risk for both stroke as well as perioperative complications. Despite radiographic evidence of progressive stenosis in 48% of patients, nearly all demonstrated stable or improved neurological status after surgical revascularization. Surgical revascularization for children with NF1 appears safe and is protective against further ischemic and neurological damage, with a 27-fold reduction in stroke rate.

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Daniel K. Arrington, Amy R. Danehy, Analise Peleggi, Mark R. Proctor, Mira B. Irons and Nicole J. Ullrich

Object

Skull defects, including sphenoid dysplasia and calvarial defects, are rare but distinct findings in patients with neurofibromatosis Type 1 (NF1). The underlying pathophysiology is unclear. The goal of this study was to identify the clinical characteristics and natural history of skull defects in patients with NF1.

Methods

An electronic search engine of medical records was used to identify patients with NF1 and bony skull anomalies. All clinical, radiographic, pathology, and operative reports were reviewed. The relationship between bony anomalies and significant clinical associations was evaluated. This study received institutional review board approval.

Results

Twenty-one patients were identified. The mean age at NF1 diagnosis was 4.2 years. The mean age at skull defect diagnosis was 8.8 years (9.7 years in the sphenoid wing dysplasia group and 11.9 years in the calvarial defect group). Sphenoid dysplasia was associated with a plexiform neurofibroma or dural ectasia in 73.3% and 80.0% of cases, respectively. Calvarial defects were associated with a plexiform neurofibroma or dural ectasia in 66.7% and 33.3% of patients, respectively. An absence of either an associated neurofibroma or ectasia was not noted in any patient with sphenoid wing dysplasia or 25.0% of those with calvarial defects. In 6 patients, both types of skull defects presented simultaneously. Serial imaging studies were obtained for a mean follow-up time of 7.5 years (range 0.4–20.0 years). Of these patients with serial imaging, radiographic progression was found in 60% of cases of calvarial defects and 56% of cases of sphenoid wing dysplasia. Two patients underwent surgical repair of a skull defect, and both required repeat procedures.

Conclusions

The majority of skull defects in patients with NF1 were associated with an adjacent structural lesion, such as a plexiform neurofibroma or dural ectasia. This findings from this cohort also support the concept of progression in defect size in more than half of the patients. Potential mechanisms by which these secondary lesions contribute to pathogenesis of the bony defect may include changes in the bony microenvironment. A better understanding of the pathophysiology of skull defects will help guide detection, improve treatment and outcome, and may contribute to the understanding of the pathogenesis of bony lesions in NF1.

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Ning Lin, Lissa Baird, McKenzie Koss, Kimberly E. Kopecky, Evelyne Gone, Nicole J. Ullrich, R. Michael Scott and Edward R. Smith

Object

Limited data exist to guide management of incidentally discovered pediatric moyamoya. Best exemplified in the setting of unilateral moyamoya, in which the unaffected side is monitored, this phenomenon also occurs in populations undergoing routine surveillance of the cerebral vasculature for other conditions, such as sickle cell disease (SCD) or neurofibromatosis Type 1 (NF1). The authors present their experience with specific syndromic moyamoya populations to better characterize the natural history of radiographic and clinical progression in patients with asymptomatic moyamoya.

Methods

The authors performed a retrospective review of the clinical database of the neurosurgery department at Children's Hospital Boston, including both nonoperative referrals and a consecutive series of 418 patients who underwent surgical revascularization for moyamoya disease between 1988 and 2010.

Results

Within the period of time studied, 83 patients were asymptomatic at the time of radiographic diagnosis of moyamoya, while also having either unilateral moyamoya or moyamoya in association with either SCD or NF1. The mean age at presentation was 9.1 years (range 1–21 years), and there were 49 female (59%) and 34 male (41%) patients. The mean follow-up duration was 5.4 ± 3.8 years (mean ± SD), with 45 patients (54%) demonstrating radiographic progression and 37 (45%) becoming symptomatic within this period. Patients with SCD had the highest incidence of both radiographic (15 patients [75%]) and clinical (13 patients [65%]) progression, followed by NF1 (20 patients [59%] with radiographic progression and 15 patients [44%] with clinical progression) and patients with unilateral moyamoya (10 patients [35%] with radiographic progression and 9 patients [31%] with clinical progression).

Conclusions

Radiographic progression occurred in the majority of asymptomatic patients and generally heralded subsequent clinical symptoms. These data demonstrate that moyamoya is a progressive disorder, even in asymptomatic populations, and support the rationale of early surgical intervention to minimize morbidity from stroke.

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Judith M. Wong, Susan N. Chi, Karen J. Marcus, Bat-Sheva Levine, Nicole J. Ullrich, Shannon MacDonald, Mirna Lechpammer and Liliana C. Goumnerova

The authors describe the case of a young girl with suprasellar germinoma. Six weeks after this diagnosis, just prior to initiation of therapy, serum and CSF marker analysis revealed sudden and marked elevation of α-fetoprotein, indicating transformation of her germinoma to a nongerminomatous germ cell tumor. She underwent chemotherapy and radiation therapy per the national treatment approach for the new diagnosis, with subsequent return of her serum and CSF tumor markers to normal levels. To the authors' knowledge, this is the first case in the English-language literature of a nongerminomatous germ cell tumor resulting from conversion of germinoma at the original site of presentation.

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Albert H. Kim, Elizabeth A. Thompson, Lance S. Governale, Catalina Santa, Kevin Cahll, Mark W. Kieran, Susan N. Chi, Nicole J. Ullrich, R. Michael Scott and Liliana C. Goumnerova

Object

Low-grade glial and glioneuronal brain tumors are frequently encountered in the pediatric population and can be effectively treated by resection. The authors aimed to use imaging to evaluate how often tumors recurred and to determine if recurrences were associated with any clinical symptoms, along with the financial costs of imaging, in patients with radiographically proven gross-total resection (GTR) at Boston Children's Hospital. These data were assessed to propose guidelines regarding postoperative surveillance.

Methods

The authors performed a retrospective cohort analysis of the Pediatric Brain Tumor Program database from 1993 to 2003 to identify patients with glial or glioneuronal tumors initially evaluated at Boston Children's Hospital. Among the 888 patients evaluated for any type of brain tumor during this period, 67 patients had WHO Grade I glial or glioneuronal lesions with radiographically proven GTR and available follow-up data. The frequency and timing of postoperative imaging was compared with the institutional protocol. Recurrence-free survival was calculated using the Kaplan-Meier method. Financial costs of imaging were available from 2001 to 2009 and were averaged to extrapolate the postoperative surveillance costs.

Results

Among the 67 patients with GTR, 13 recurrences were detected radiographically with a mean time to recurrence of 32.4 months (range 2.9–128.5 months). The mean duration of follow-up after surgery was 6.6 years. The recurrence-free survival at 2 and 5 years after GTR for all low-grade glial and glioneuronal tumors was 0.90 (95% CI 0.82–0.97) and 0.82 (95% CI 0.73–0.92), respectively. No clinical symptoms were associated with any of the recurrences, and no deaths occurred. Under the institutional protocol of surveillance imaging, the estimated cost per recurrence at 5 years was $104,094 per patient. The proposed protocol would reduce the number of MR scans in the first 5 years from 10 to 5, providing a potential cost savings of $52,047 per recurrence.

Conclusions

Given the slow-growing, clinically asymptomatic nature of low-grade glial and glioneuronal tumors coupled with the financial and psychological costs of repeated imaging, the authors propose a postoperative surveillance MRI schedule that is less intensive than current institutional practice.

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Oral Presentations

2010 AANS Annual Meeting Philadelphia, Pennsylvania May 1–5, 2010