Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case

2020 ◽  
pp. 1-7
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Martina Formisano ◽  
Luca Scuderi ◽  
Siavash Rahimi
2018 ◽  
Vol 20 (suppl_2) ◽  
pp. i145-i145
Author(s):  
Mariana Fernandes ◽  
João Passos ◽  
Daniela Garcez ◽  
Manuela Mafra ◽  
Maria Fátima Campos ◽  
...  

Author(s):  
Romain Touzé ◽  
Anthony Manassero ◽  
Dominique Bremond‐Gignac ◽  
Matthieu P. Robert

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gentaro Kumagai ◽  
Naoki Echigoya ◽  
Kanichiro Wada ◽  
Toru Asari ◽  
Satoshi Toh ◽  
...  

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.


2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi176-vi176
Author(s):  
Ina Ly ◽  
Raquel Thalheimer ◽  
Wenli Cai ◽  
Miriam Bredella ◽  
Vanessa Merker ◽  
...  

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.


Author(s):  
A. Bolčeková ◽  
A. Hlavatá ◽  
A. Zat'ková ◽  
M. Némethová ◽  
M. Holobradá ◽  
...  

AbstractNeurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.


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