Neurofibromatosis type I. A case report
Keywords:
Neurofibromatosis type I, imaging results, Lisch nodulesAbstract
Neurofibromatosis type 1 is a hereditary disease, which is characterized by the formation of tumors or neurofibromas that originate in the cells and tissues that cover the nerves. They are generally benign, but as they grow, they can cause pain, damage to neighboring tissues and sometimes skin manifestations such as brown spots, abnormalities in the bones, eyes and the endocrine and central nervous system. A clinical case of neurofibromatosis type I was presented in a patient with ocular clinical manifestations, treated in the Optometry service of the Metropolitan University during the year 2022. The case was summarized using the complete clinical history, with the data provided from the interconsultations with the relevant medical specialties in addition to carrying out complementary studies, bibliographic reviews and the correlation of the clinical findings found. The ophthalmological examination showed Lish nodules in both irises, as well as the imaging results that showed a homogeneous hypoechoic image of the anterior region of the arm and right thigh compatible with neurofibroma, not painful on palpation. The pathological diagnosis was neurofibroma of the right median nerve. Neurofibromatosis type I requires a multidisciplinary approach for its correct diagnosis.
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