Case of the Month 21 March 2017 History: 50-year-old male referred from his general practioner: stopped smoking a year ago, but recently experiencing increasing dyspnea. CXR requested.

Case of the Month 21 2018/6/2

Case of the Month 21 What is your diagnosis ?

Case of the Month 21 March 2017 History: 50-year-old male referred from his general practioner: stopped smoking a year ago, but recently experiencing increasing dyspnea. CXR requested.

Case of the Month 21 2018/6/2

Case of the Month 21 What is your diagnosis ?

Author: Anagha Parkar, Bergen, Norway Case of the Month 21 Diagnosis Neurofibromatosis Author: Anagha Parkar, Bergen, Norway

Case of the Month 21 Emphysema, as also suspected on CXR Ground glass opacities Apical cysts/bullae Slight septal thickening in the lower lobes Three cutaneous fibromas are depicted The diagnosis was made due to a combination of lungs and skin findings It transpired later that this was a known entity in this patient

Discussion Case of the Month 21 Neurofibromatosis type 1, is a genetic disorder, either autosomal dominant inherited or spontaneous mutation It usually affects the skin, nervous system and bones, but may occur anywhere In the lungs it normally presents as fibromas, but can also induce interstitial lung disease In interstitial disease, the most common symptom is dyspnea (80%), and males are more often affected than females. A pattern of upper lobe cystic/bullous disease with lower lobe fibrosis (but no classic honeycombing) seems to be common in interstitial presentation of Neurofibormatosis type 1 Ground glass opacities and emphysema may also be present.

Further Reading Case of the Month 21 1.Neurofibromatosis-associated lung disease: a case series and literature review. Zamora AC, Collard HR, Wolters PJ, Webb WR, King TE. Eur Respir J 2007 Jan;29(1):210-4. Review. 2. Neurofibromatosis type 1: a diagnostic mimicker at CT. Fortman BJ, Kuszyk BS, Urban BA, Fishman EK. Radiographics 2001 May-Jun;21(3):601-12.