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J Int Med Res ; 50(12): 3000605221139716, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36510447

RESUMO

Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic resonance imaging were performed. The patient was then transferred to the general surgery department, where a clinical diagnosis of NF1 was established. The clinical manifestations were specific for this disease, including café-au-lait macules, plexiform neurofibroma, and a history of neurofibromatosis in her mother. The patient underwent surgical resection of the neurofibroma, which resulted in a favorable outcome. However, 2 years later, a new mass attached to the second lumbar spinal nerve was revealed by a follow-up computed tomography scan. Long-term and close follow-up of NF1 is required because of the high risk of malignancy and recurrence in NF1 patients.


Assuntos
Neurofibroma , Neurofibromatoses , Neurofibromatose 1 , Humanos , Feminino , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/genética , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/patologia , Neurofibroma/diagnóstico por imagem , Neurofibroma/genética , Neurofibroma/cirurgia , Imageamento por Ressonância Magnética
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