Neurofibromatosis type I in childhood: a clinical case report

Abstract

Objective: Report the clinical case of a patient diagnosed with Neurofibromatosis type 1 in childhood and correlate with the literature regarding the symptoms, diagnosis and treatment methods. Case Details: Male patient, 3 years and 6 months, preschool, and white. At birth, 'coffee au lait' spots larger than 5mm in diameter were observed. The pediatrician then referred him to the dermatologist, who, suspecting type I neurofibromatosis, referred the patient to several specialties such as neurology and ophthalmology. Through magnetic resonance imaging, the presence of optic glioma was evidenced, confirmation of the “coffee au lait” spots was performed, and other symptoms such as bone malformations were evidenced. Diagnosis was closed following the criteria presented in the medical literature. Final considerations: This report demonstrates the importance of carrying out an early diagnosis for correct management and adequate follow-up of the patient, thus avoiding an even greater negative impact on the quality of life of the patient and his family.