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Título

NEUROFIBROMATOSIS TYPE 1: CASE REPORT

RESUMO

Neurofibromatosis is a neurocutaneous syndrome characterized by tumors in the central or peripheral nervous system and in the skin, and can be of three types: 1 (NF1), 2 (NF2), and Schwannomatosis. NF1 is the most common type, also called Von Recklinghausen's disease, and is a rare genetic disorder with vertical autosomal dominant transmission and an estimated incidence of 1:2500-3000 live births. It is caused by a de novo or inherited loss-of-function mutation in the neurofibromin 1 gene, located in band 17q11.2, and encodes the tumor suppressor neurofibromin. The diagnosis is clinical, and there are seven criteria for recognition, two of which are sufficient for that purpose: at least six café-au-lait spots, larger than 5 mm in pubertal period or larger than 15 mm post-pubertal; at least two neurofibromas or one or more plexiform neurofibromas; axillary or groin freckles; optic glioma; two or more Lisch nodules; sphenoid dysplasia, dysplasia, or enlargement of the cortex of long bones; first-degree relative with NF1. The objective of this paper is to describe the case of a patient with neurofibromatosis type 1 who died due to the appearance of neurofibromas in internal organs. Female, 8 years old, diagnosed with neurofibromatosis at birth because her father was a carrier of the disease. She developed nodules only internally, but in vital regions, so she underwent seven surgeries until she was 8 years old. She was diagnosed with a nodule in the mediastinum at that age, and 3 to 4 months later in the throat, which was impossible to remove. She began to lose speech and have recurrent respiratory infections, and was hospitalized at least eight times with pneumonia. She was placed in the ICU, placed on non-invasive mechanical ventilation, and required respiratory physiotherapy to try to maintain airway patency. She was on drug therapy with traditional corticoids, antibiotics, and analgesics. She had café au lait spots and Lisch nodules. Eight months after the appearance of these nodules, a brain nodule was discovered, also impossible to remove, all benign but located in vital organs. Afterwards, he began to present frequent headaches, important visual alterations and convulsive crises, dying about a year and a half after the discovery of the nodules. It is important to highlight that, even though the disease was inherited from the father, the patient had a greater evolution due to the appearance of the nodules being in internal organs.

Palavras Chave

neurofibromatosis type 1, neurofibromas

Área

Neurogenética