Abstract

MARZO RAMIREZ, Talía; GUERRERO CHAVEZ, Lilian  and  LACOSTA ZAMORA, Josué. Neurofibromatosis type I. Case report. Rev. inf. cient. [online]. 2019, vol.98, n.3, pp. 395-404.  Epub July 23, 2019. ISSN 1028-9933.

A 25-year-old male patient presented with subcutaneous tumors in the limbs, dorso-vertebral region and difficulty walking. For this picture, he was admitted to the General Teaching Hospital "Dr. Agostinho Neto" for study and treatment. When the neurological examination was performed, there was presence of antalgic gait, supra and infraclavicular muscular atrophy, spinous, interosseous, tenar and bilateral hypothenar, subcutaneous tumors at the level of the neck, extremities and trunk, several "coffee with milk" spots, as well as a decrease of muscular strength 4/5 proximal distal of extremities. The radiological studies evidenced tumor bundle in the paravertebral and inguinal area, extraction and biopsy were performed, and neurofibromas were reported, diagnosing neurofibromatosis type I. Because it is one of the most frequent hereditary diseases, but less studied in our environment, it was decided to carry out this study.

Keywords : neurocutaneous syndrome; neurofibromatosis; hereditary disease.

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