Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath ...
🔺周围神经鞘肿瘤(Peripheral nerve sheath tumors):即神经纤维瘤(neurofibromas),常见于NF-1患者脊柱旁区域(paravertebral regions)。 🔺脑干胶质瘤(Brainstem glioma):特征为脑干区膨胀性生长的强化占位性病变。 🔺烟雾病(Moyamoya syndrome):表现为床突上段颈内动脉(supraclinoid internal carotid artery)或Willis环...
神经纤维瘤病( neurofibromatosis,NF)源于神经上皮组织的常染色体显性遗传病,为神经皮肤综合征的一种,主要累及皮肤、周围神经和中枢神经系统,因常伴特征性皮肤斑痣,故又称斑痣性错构瘤病,分Ⅰ型神经纤维瘤病和Ⅱ型神经纤维瘤病,NF1型基因定位于第17号染色体,NF2型定于22号染色体,其中NF1 较常见,发生率约1 /3000...
Introduction Neurofibromatosis type 1 (NF1), one of the most common neurocutaneous disorders, is a multisystemic disease associated with tumors in any organ of the body, especially in the central nervous system and also the peripheral nervous system. Pilocytic astrocytomas have been described in ...
https://www.youtube.com/watch?v=9PcGEt1fDSo 来源:YouTube,Neuro-Ophthalmology with Dr. Andrew G. Lee The videos on this channel are intended for educational purposes only. Please note that variations in management may occur based on individual clinical presentations. Always consult a qualified ...
Neurofibromatosis type 1 (NF-1) is also known as von Recklinghausen disease. It is a rare autosomal dominant disorder that affects the skin and nervous system. The head and neck region is one of the potential areas for the involvement of neurofibromatosis due to the unique anatomical ...
Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various somatic manifestations and cognitive impairments, but the latter are sparsely described in adults. This study aimed at characterizing potential impairments of neurocognitive functions using neuropsychological tests as well as a ...
How Is NF1 Inherited? Neurofibromatosis type 1 is an autosomal dominant disorder. Therefore, only one copy of a mutated or deleted gene will lead to the disease. It affects males and females equally. It has near complete penetrance when the mutation is inherited; however, the observable clinica...
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant neurogenetic disorder, affecting 1 in 3000 people worldwide. While individuals with NF1 typically come to medical attention with characteristic pigmentary abnormalities (café-au-lait macules [CALMs], skinfold freckling, Lisch nodules), th...
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 1998;102(5):591-7.M. Upadhyaya, M. Ruggieri, J. Maynard, M. Osborn, C. Hartog, S. Mudd...