Neurofibromatosis Type 1. Clinical Case
DOI:
https://doi.org/10.61788/njn.v1i23.08Keywords:
neurofibromatosis, diagnosis, clinical criteriaAbstract
The relevance of the topic covered in the article is related to the fact that doctors have little knowledge about this nosology. For this reason, a timely and incorrect diagnosis can result in wrong treatment, reduce the patient's quality of life and even lead to death. The diagnosis of the patient we investigated was determined according to the clinical criteria developed by the National Institute of Health of the United States. If genetic examination is not performed, the established diagnosis can be considered justified. It is imperative that several medical professionals (neurologist, traumatologist, ophthalmologist, surgeon, pediatrician, gynecologist, etc.) are aware of a disease like neurofibromatosis (NF). Basing on the clinical criteria developed by the US National Institutes of Health provides favorable conditions for diagnosing patients.
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