Ganglioneuromas are rare, benign neurogenic tumors characterized by a proliferation of ganglion cells, nerve fibers, and support cells of the nervous system. They have been classified into three groups: solitary, polyposis, and diffuse. The diffuse type has several syndromic associations including multiple endocrine neoplasia syndrome type 2B and, less commonly, neurofibromatosis type 1. We report a case of diffuse ganglioneuromatosis in the colon of a 49-yearold male with a history of neurofibromatosis type 1. Gastrointestinal neoplasms associated with neurofibromatosis type 1 are reviewed.
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Cureus
December 2024
Internal Medicine, Unidade Local de Saúde da Região de Aveiro, Aveiro, PRT.
Schwannomas (SCs) are benign tumors composed of neoplastic Schwann cells and are relatively uncommon intracranially. Although these tumors are frequently associated with neurofibromatosis type 2 (NF2), they may also arise idiopathically, and their pathogenesis remains poorly understood. A 70-year-old Caucasian man presented with a two-month history of vertigo, gait imbalance, and decreased visual acuity in the left eye accompanied by photophobia, nausea, vomiting, and occasional headaches.
View Article and Find Full Text PDFCureus
November 2024
Neurosurgery, Erciyes University Faculty of Medicine, Kayseri, TUR.
Intramedullary schwannomas are a type of benign spinal cord tumor that originates from the Schwann cells of the nerve sheath. They are relatively rare and typically occur within the spinal cord itself, rather than in the surrounding tissue. Treatment options for cervical intramedullary schwannomas include surgical removal of the tumor, radiation therapy, and observation.
View Article and Find Full Text PDFZhonghua Yi Xue Za Zhi
December 2024
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, affecting approximately 1 in 3 000 newborns worldwide. Plexiform neurofibroma (PNF) is one of the common clinical manifestations of NF1. PNF can lead to a range of clinical symptoms, with a high rate of disability and teratogenesis; furthermore, there is a risk for malignant transformation that poses significant threats to the life and health of patients.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Department of Orthopedics and Trauma-Surgery P32, University Hospital Center IBN Rochd, Casablanca, Morocco.
Introduction: Neurofibromas are rare benign tumors of peripheral nerve sheaths, and hand involvement is particularly uncommon. This case report presents a large neurofibroma located in the thenar region, a critical area for thumb opposition and hand dexterity, posing unique surgical challenges.
Presentation Of Case: A 23-year-old female presented with a 3-year history of a progressively enlarging mass in the thenar region of the right hand, accompanied by nocturnal pain but no neurological deficits.
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.
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