Neurofibromatosis type 1 with interstitial pulmonary lesions diagnosed in adult patient. A case study and literature review

Abstract

A case of a 43-year-old man with clinically diagnosed neurofibromatosis type I (NF-1, von Recklinghausen disease), was referred to a lung disease unit in order to diagnosis of worsening tolerance to physical effort, and aetiology of radiological cystic lesions in the lungs, seen in the high-resolution computed tomography (HRCT). Since childhood the patient has been treated for epilepsy, and a 3rd degree tricuspid valve incompetence, without pulmonary hypertension was detected during right heart catheterization. Finally, the interstitial pulmonary lesions were attributed to the primary disease, and it was said they need further clinical observation in order to determine their dynamics. The observed deterioration in patient's tolerance to physical effort was connected to the accompanying infection of the respiratory system with Klebsiella oxytoca and Staphylococcus aureus, with cystic lesions in lungs and tricuspid valve incompetence. The report describes the criteria for NF-1 diagnosis, as well as points out the controversies of coexistence of interstitial pulmonary lesions in the clinical picture of the disease. © 2012 Via Medica.