Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization

2013 ◽  
Vol 11 (4) ◽  
pp. 417-425 ◽  
Author(s):  
McKenzie Koss ◽  
R. Michael Scott ◽  
Mira B. Irons ◽  
Edward R. Smith ◽  
Nicole J. Ullrich
Keyword(s):  
Perioperative Complications ◽  
Neurofibromatosis Type ◽  
Neurological Status ◽  
Neurological Deficits ◽  
Moyamoya Syndrome ◽  
Surgical Revascularization ◽  
Radiographic Evidence

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.

scholarly journals NIMG-66. LONG-TERM FOLLOW-UP OF NEUROFIBROMATOSIS TYPE 1 PATIENTS USING WHOLE-BODY MRI DEMONSTRATES DYNAMIC CHANGES IN INTERNAL NEUROFIBROMA SIZE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi176-vi176
Author(s):  
Ina Ly ◽  
Raquel Thalheimer ◽  
Wenli Cai ◽  
Miriam Bredella ◽  
Vanessa Merker ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Childhood And Adolescence ◽  
Entire Study ◽  
Whole Body Mri

Abstract BACKGROUND Neurofibromas affect 40–50% of neurofibromatosis type 1 (NF1) patients and can cause significant morbidity and mortality. They grow more rapidly during childhood and adolescence but studies in adults are limited by their retrospective nature and follow-up time < 3 years. The long-term natural history of neurofibromas remains unknown. No guidelines exist on the need and frequency of surveillance imaging for patients. Whole-body MRI (WBMRI) can detect whole-body tumor burden, including internal neurofibromas. METHODS 17 adult NF1 patients who underwent WBMRI between 2007–2010 (Scan 1) underwent repeat WBMRI between 2018–2019 (Scan 2). Internal neurofibromas were segmented on short tau inversion recovery (STIR) sequences and tumor volume was calculated using a computerized volumetry and three-dimensional segmentation software. Circumscribed tumors were defined as discrete; invasive tumors or those involving multiple nerves were defined as plexiform. Tumor growth and shrinkage were defined as volume change ≥ 20% over the entire study period. RESULTS Median patient age was 43 years during Scan 1 and 53 years during Scan 2. Median time between Scan 1 and 2 was 9 years. A total of 140 neurofibromas were assessed. 24% of tumors grew by a median 63% (6.8% per year). 54% of tumors spontaneously decreased in volume by a median 60% (7% per year) without treatment. On a per-patient basis, 18% of patients had overall tumor growth and 41% overall tumor shrinkage. 8 new tumors developed in 7 patients. 16 tumors resolved entirely without medical or surgical intervention. Growth behavior did not correlate with discrete or plexiform morphology. CONCLUSION A subset of internal neurofibromas in adult NF1 patients grow significantly over a long-term period, suggesting that continued monitoring of these patients may be warranted. Surprisingly, more than half of neurofibromas shrink spontaneously without intervention. Continued patient enrollment and correlation of imaging findings with functional outcomes are underway.

scholarly journals Posterior only instrumented fusion provides incomplete curve control for early-onset scoliosis in type 1 neurofibromatosis

2019 ◽  
Author(s):  
Jianguo zhang ◽  
Siyi Cai ◽  
zhenyao Li ◽  
Guixing Qiu ◽  
Jianxiong shen ◽  
...  
Keyword(s):  
Spinal Fusion ◽  
Early Onset ◽  
Neurofibromatosis Type ◽  
Posterior Spinal Fusion ◽  
Early Onset Scoliosis ◽  
Fusion Surgery ◽  
Major Curve

Abstract Background: The mid-long term outcomes of posterior spinal fusion in pediatric neurofibromatosis type 1 (NF-1) patients are rarely reported, so does the effectiveness of itsorthopeidc maintenance function. This study aims to evaluate the mid-long term surgical outcomes of posterior only instrumented spinal fusion for early-onset scoliosis (EOS) in NF-1 patients. Methods: A retrospective review was performed on a cohort of 10 NF-1 patients having EOS from 2008 to 2014 in our hospital, including four male and six female patients with an age averaged at 7.8 years old when they underwent posterior only instrumented spinal fusion for their EOS. Both general clinical data and surgical specific data of the patients were collected and reviewed, and the dystrophic progression of EOS was evaluated during the follow-up. Results: The average duration of follow-up was 54 months (24 to 88 months). All patients underwent posterior only instrumented spinal fusion at 1 stage. The primary curves of EOS were thoracic in 9 cases and 1 patient had lumbar scoliosis. Preoperative major curve was significantly corrected (from 66.1 to 31.1 degrees). However, the major curve deteriorated significantly to 40.1 degrees on average at the end of the follow-up. The T1-S1 distance increased 2.8 cm on average and kept increasing at a rate of 0.6cm/year during the follow-up. Conclusions: Posterior only fusion surgery was not a good option to treat the EOS in NF-1 patients despite the relatively short segments involvement in the disease. The maintenance of orthopedic effect after treatment was not satisfactory.

scholarly journals NFM-13. LONG TERM FOLLOW-UP OF OPTIC PATHWAY GLIOMAS IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 – AN ONCOLOGY HOSPITAL EXPERIENCE

2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i145-i145
Author(s):  
Mariana Fernandes ◽  
João Passos ◽  
Daniela Garcez ◽  
Manuela Mafra ◽  
Maria Fátima Campos ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway ◽  
Hospital Experience ◽  
Long Term Follow Up ◽  
Optic Pathway Gliomas

Anterior expandable strut cage replacement for osteoporotic thoracolumbar vertebral collapse

2006 ◽  
Vol 4 (6) ◽  
pp. 454-462 ◽  
Author(s):  
Kenzo Uchida ◽  
Shigeru Kobayashi ◽  
Hideaki Nakajima ◽  
Yasuo Kokubo ◽  
Takafumi Yayama ◽  
...  
Keyword(s):  
Neurological Status ◽  
Neurological Deficits ◽  
Vertebral Body Replacement ◽  
Vertebral Collapse ◽  
Expandable Cage ◽  
Cage Subsidence ◽  
The Mean ◽  
Type 3

Object The authors investigated the usefulness of using an expandable cage strut in anterior reconstruction after osteoporotic vertebral collapse in patients with neurological deficits. Methods Twenty-eight patients who had undergone expandable cage strut–augmented anterior thoracolumbar reconstruction participated in a follow-up review for a mean of 4.9 years. Radiographs were reviewed for kyphosis, lateral tilt of the implant, cage subsidence, the presence of a solid fusion mass, and instrumentation failure. Changes in neurological status and visual analog scale (VAS) pain score, as well as technique-related complications, were examined. The mean angles ± the standard deviations of kyphosis correction 4 to 6 weeks after surgery and at final follow-up examination were 10.4 ± 7.6° and 5.6 ± 6.0°, respectively. The mean subsidence of the expandable cage within the adjacent vertebrae was 2.5 ± 3.0 mm at the final follow-up examination. Neurological improvement at the final follow up was more significant in patients with Type 1 (wedge-type) than Type 2 (flat-type) (p = 0.037) or Type 3 (concave-type) (p = 0.006) vertebral collapse. Follow-up VAS scores were significantly higher in patients with Type 1 than Type 3 collapse (p = 0.012). In all cases the authors observed solid union with incorporation of the cage. There were no surgery-related complications. Conclusions An expandable titanium cage strut seems useful in vertebral body replacement in patients with osteoporotic thoracolumbar collapse. Favorable results were obtained in cases of Type 1 collapse (wedge type) in which the middle and posterior columns remained comparatively intact.

Long‐term follow‐up of choroidal abnormalities in children with neurofibromatosis type 1

2021 ◽  
Author(s):  
Romain Touzé ◽  
Anthony Manassero ◽  
Dominique Bremond‐Gignac ◽  
Matthieu P. Robert
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Long Term Follow Up

scholarly journals Anterior Fusion using a Vascularized Fibular Graft for Cervical Kyphosis Associated with Neurofibromatosis Type 1: A Report of Two Cases with Long-term Follow-up

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gentaro Kumagai ◽  
Naoki Echigoya ◽  
Kanichiro Wada ◽  
Toru Asari ◽  
Satoshi Toh ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Fibular Graft ◽  
Anterior Fusion ◽  
Cervical Kyphosis ◽  
Vascularized Fibular Graft ◽  
Long Term Follow Up

Introduction: Vascularized fibular grafts (VFG) in the cervicothoracic spine have been used for patients with progressive neurofibromatosis (NF) type-1-related kyphosis, but the long-term outcomes of VFG with NF-1 are not well described. We describe the long-term follow-up of two cases of cervical kyphosis related to NF-1 treated with VFG in the cervical spine. Case Report: Case 1 was that of a 33-year-old man with a large neurofibroma at the back of his neck and an arteriovenous malformation at C2–7. The neurofibroma was resected by durotomy and intradural neurofibromas were extirpated through O-C6 laminectomy. Anterior fusion with VFG was performed 6 months later, and bone union was confirmed after 4 months. Cervical alignment was maintained with 50° kyphosis 15 years after the operation. The man suffered a subarachnoid hemorrhage 22 years after the operation. Case 2 was a 23-year-old woman with diastematomyelia at C6–T1 who was treated by anterior fusion with VFG at C4–T1. The diastematomyelia septum was resected through a C4–T1 laminectomy with simultaneous posterolateral fusion at C3–T2. Cervical alignment was maintained with 50° kyphosis 18 years later. The left vertebral artery ruptured and was embolized 10 years after the operation. Conclusion: Anterior fusion with VFG can achieve good bone union and maintains long-term alignment. However, it is important to watch for vascular events related to NF-1. Keywords: Vascularized fibular graft, cervical kyphosis, neurofibromatosis type 1.

scholarly journals Posterior only instrumented fusion provides incomplete curve control for early-onset scoliosis in type 1 neurofibromatosis

2020 ◽  
Author(s):  
Siyi Cai ◽  
Zhenyao Li ◽  
Guixing Qiu ◽  
Jianxiong shen ◽  
Hong Zhao ◽  
...  
Keyword(s):  
Spinal Fusion ◽  
Early Onset ◽  
Neurofibromatosis Type ◽  
Posterior Spinal Fusion ◽  
Early Onset Scoliosis ◽  
Fusion Surgery ◽  
Major Curve

Abstract Background: The mid-long term outcomes of posterior spinal fusion in pediatric neurofibromatosis type 1 (NF-1) patients are rarely reported, so does the effectiveness of itsorthopeidc maintenance function. This study aims to evaluate the mid-long term surgical outcomes of posterior only instrumented spinal fusion for early-onset scoliosis (EOS) in NF-1 patients. Methods: A retrospective review was performed on a cohort of 10 NF-1 patients having EOS from 2008 to 2014 in our hospital, including four male and six female patients with an age averaged at 7.8 years old when they underwent posterior only instrumented spinal fusion for their EOS. Both general clinical data and surgical specific data of the patients were collected and reviewed, and the dystrophic progression of EOS was evaluated during the follow-up. Results: The average duration of follow-up was 54 months (24 to 88 months). All patients underwent posterior only instrumented spinal fusion at 1 stage. The primary curves of EOS were thoracic in 9 cases and 1 patient had lumbar scoliosis. Preoperative major curve was significantly corrected (from 66.1 to 31.1 degrees). However, the major curve deteriorated significantly to 40.1 degrees on average at the end of the follow-up. The T1-S1 distance increased 2.8 cm on average and kept increasing at a rate of 0.6cm/year during the follow-up. Conclusions: Posterior only fusion surgery was not a good option to treat the EOS in NF-1 patients despite the relatively short segments involvement in the disease. The maintenance of orthopedic effect after treatment was not satisfactory.

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