Managing neurofibromatosis type I and vision impairment in a resource-limited setting: a case study and multidisciplinary approach

Abstract

Background: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the development of multiple benign tumors along nerves in the skin, brain, and other parts of the body. It is associated with a range of clinical manifestations, including skin lesions, neurofibromas, and ocular abnormalities, which can significantly impact a patient’s quality of life. Management of NF1 is particularly challenging in resource-limited settings due to limited access to diagnostic and therapeutic resources. Clinical presentation: A 62-year-old woman with a known history of NF1 presented with progressive visual impairment. Her condition began in childhood with multiple hyperpigmented skin macules, which developed into numerous cutaneous tumors over time. Examination revealed numerous neurofibromas, café-au-lait spots, and axillary freckling. Significant visual impairment was caused by large fibromas on her eyelids. Histological analysis confirmed benign nerve tissue tumors. Clinical discussion: The management strategy in this resource-limited setting focused on regular monitoring, patient education, symptomatic treatment, and multidisciplinary care. Despite the limitations, the patient’s condition was managed effectively through these adapted strategies. The importance of genetic testing for confirmation and further management was noted but not performed due to resource constraints. Conclusion: This case highlights the complexities of managing NF1 in resource-limited settings, emphasizing the need for adaptable management approaches. Multidisciplinary care and patient education were crucial in improving the patient’s quality of life. This case underscores the importance of early diagnosis and intervention to prevent complications like visual impairment.