[The case of neurofibromatosis type ! in a 5-year-old boy]

In the work we present the case of a 5-year-old boy who was admitted to the clinic because of the tumour in mediastinum. According to the results of the investigation the diagnosis of Recklinghausen disease was made. The tumour was situated in the region of pharynx, neck and mediastinum. The diagnosis was based on the characteristic features in the physical examination (café-au-laît spots, freckles in armpits and grains) and accessory investigations (x-ray, CT, NMR and histopathology). In the boy's family this disease was not noticed, although in his mother we observed café-au-laît spots on the skin of abdomen. Despite the fact that the diagnosed disease is known as a mild one (from the histopathological point of view) in the case of our patient it turned out to be much more clinically malignant because of the localization of the tumour. This situation forced us to the application of much more aggressive treatment (chemotherapy, operation).