Introduction And Importance: Spinal schwannomas are benign tumors usually attached to peripheral nerves, consisting of a clonal population of Schwann cells. Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder that predominantly affects the skin, bone and nervous system. Neurofibromatosis type 1 is a clinically and genetically distinct from neurofibromatosis type 2. This case report highlights the rare association between spinal schwannoma and neurofibromatosis type 1.
Case Presentation: The patient with a past medical history of spinal schwannoma, operated 1 year back, presented with back pain, weakness of lower limbs and urge incontinence. On examination, she had cutaneous features suggestive of neurofibromatosis type 1 and there was impairment of all sensory modalities below hip region. MRI revealed spinal schwannoma at D9 level for which laminectomy with removal of schwannoma was performed.
Clinical Discussion: The occurrence and recurrence of spinal schwannoma in neurofibromatosis type 2 is a common finding. But such an association has not been established between spinal schwannoma and neurofibromatosis type 1. In this case, the recurrence of spinal schwannoma has been linked to neurofibromatosis type 1 in the absence of other well-defined etiologies.
Conclusion: The occurrence of spinal schwannoma can be genetic or sporadic. The recurrence is usually associated with familial tumor syndrome. The available literature has not established association between neurofibromatosis type 1 and spinal schwannoma, thus, emphasizing the need of more focused studies.
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http://dx.doi.org/10.1097/MS9.0000000000002457 | DOI Listing |
Neuro Oncol
January 2025
Department of Neurology, Division of Infectious Diseases, Washington University School of Medicine, St. Louis MO 63110 USA.
Background: The intestinal microbiota regulates normal brain physiology and the pathogenesis of several neurological disorders. While prior studies suggested that this regulation operates through immune cells, the underlying mechanisms remain unclear. Leveraging two well characterized murine models of low-grade glioma (LGG) occurring in the setting of the neurofibromatosis type 1 (NF1) cancer predisposition syndrome, we sought to determine the impact of the gut microbiome on optic glioma progression.
View Article and Find Full Text PDFJ Cutan Med Surg
January 2025
Division of Dermatology, McGill University, Montreal, QC, Canada.
NPJ Digit Med
January 2025
Neurofibromatosis Type 1 Center and Laboratory for Neurofibromatosis Type 1 Research, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China.
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body backgrounds. Using neurofibromatosis type 1 (NF1) as an example, this study developed highly accurate MRI-based deep-learning models for the early automated screening of malignant peripheral nerve sheath tumors (MPNSTs) against complex whole-body background.
View Article and Find Full Text PDFCancer Genet
January 2025
Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, Inserm, F-75006, Paris, France; UMR 1231 GAD, INSERM, Université de Bourgogne, Franche Comté, Dijon, France.
Background: Neurofibromatosis type 1 (NF1) is one of the most common genodermatoses. It can affect every organ and is associated with an increased risk of benign and malignant tumors. Most common tumoral locations involve nervous system and soft tissues but a large variety of tumors have been described.
View Article and Find Full Text PDFJ Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
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