Neurofibromatosis Type 1 with Interstitial Pulmonary Lesions Diagnosed in an Adult Patient. A Case Study and Literature Review

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 for investigation of worsening tolerance of physical effort and of aetiology of radiological cystic lung lesions, seen in high-resolution computed tomography (HRCT). The patient had been treated for epilepsy since childhood, and had third degree tricuspid valve incompetence, with no pulmonary hypertension detected during right heart catheterization. Interstitial pulmonary lesions were finally attributed to his primary disease, and further clinical observation is required in order to determine their dynamics. The observed deterioration in the patient’s tolerance to physical effort was connected to the accompanying respiratory tract infection with Klebsiella oxytoca and Staphylococcus aureus, in a subject with cystic lung lesions and tricuspid valve incompetence. The report describes the criteria for NF1 diagnosis and points out the controversies of coexistence of interstitial pulmonary lesions in the clinical picture of the disease.