engleski

An extreme case of neurofibromatosis type 1

Neurofibromatosis type 1 or von Recklinghausen disease is one of the most common autosomal dominant genetic disease and is associated with plexiform neurofibromata. They affect peripheral nerves, leading occasionally to a massive overgrowth of nerves and connective tissue. A 59-year-old man with neurofibromatosis type 1 was admitted to our clinic because of tumour mass overgrowth (weight 170 kg ; circumference of the tumour mass 190 cm), scrotum oedema, dyspnoea and oliguria. He was unable to walk ; large subcutaneous neurofibromata with café-au-lait spots were palpabled over both gluteal regions and thighs, he had scrotal pain. Urine volume was less than 500 ml/day. He was treated with furosemid 250 mg daily and ACE inhibitors. He lost more than 35 L of fluids in two weeks. Gradually, scrotal oedema diminished, the tumour mass was moderately reduced, urea and creatinine values normalised and he was able to perform daily activities.

Giant peduncular neurinomas; Neurofibromatosis type 1; Von Recklinghausen disease

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