Objective: For unilateral Dodge Class Ⅰ optic pathway glioma (OPG-uDCⅠ) without neurofibromatosis type 1, unilateral isolated optic nerve gliomas before the optic chiasm have been confirmed to possibly cause visual deterioration and poor prognosis. For this type of highly selective localized tumor, we explored surgery as the only treatment method. This article retrospectively analyzed and summarized the clinical data of this case series, with the aim of exploring the main technical details and clinical prognosis.
Methods: Included were patients with OPG-uDCⅠ without neurofibromatosis type 1 and experiencing vision loss on the affected side. The fronto-orbital approach was used, which was mainly divided into 3 parts: intraorbital, optic canal, and intracranial. All patients underwent prechiasmatic resection without any adjuvant treatments. The follow-up period was 3 months after surgery, and magnetic resonance imaging and contralateral visual acuity were reviewed annually after surgery.
Results: All OPG-uDCⅠ cases were completely removed without any adjuvant treatments, and there was no recurrence during the follow-up period. Pathological results showed that, except for 1 adult patient with pilomyxoid astrocytoma (World Health Organization grade Ⅱ), the others all had pilocytic astrocytoma (World Health Organization grade Ⅰ). Five patients experienced transient ptosis, and all recovered 3 months after surgery.
Conclusions: For OPG-uDCⅠ without neurofibromatosis type 1, radical prechiasmatic resection of the tumor is possible, without the need for postoperative radiotherapy and chemotherapy.
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http://dx.doi.org/10.1016/j.wneu.2023.10.105 | DOI Listing |
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFEJNMMI Res
December 2024
Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Background: To intraindividually compare the diagnostic performance of positron emission computed tomography (F-18-FDG-PET/CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in a non-inferiority design for the discrimination of peripheral nerve sheath tumours as benign (BPNST), atypical (ANF), or malignant (MPNST) in patients with neurofibromatosis type 1 (NF1).
Results: In this prospective single-centre study, thirty-four NF1 patients (18 male; 30 ± 11 years) underwent F-18-FDG-PET/CT and multi-b-value DW-MRI (11 b-values 0 - 800 s/mm²) at 3T. Sixty-six lesions corresponding to 39 BPNST, 11 ANF, and 16 MPNST were evaluated.
Diseases
December 2024
The Leo M. Davidoff Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
Background: Calvarial defects in NF1 are rare and lack standardized management guidelines. This study seeks to shed light on calvarial defects in NF1 patients with extensive skull erosion.
Methods: This case report focuses on clinical and radiological presentations and surgical interventions during six years of follow-up, comparing the results with those in the literature.
Cureus
November 2024
Neurosurgery, Shimane University Hospital, Izumo, JPN.
Neurofibromatosis type 1 (NF-1) is associated with vascular complications, including stenosis or the occlusion of the abdominal aorta and renal arteries. However, reports on the occurrence of extracranial vertebral artery aneurysms are scarce. A man in his 40s had back pain and was feeling unwell.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
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