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Case of the Month 21 March 2017. History : 5 0 -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. Case of the Month 21. What is your diagnosis ?. Case of the Month 21

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History :

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  1. 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.

  2. Case of the Month 21

  3. Case of the Month 21 What is your diagnosis ?

  4. 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.

  5. Case of the Month 21

  6. Case of the Month 21 What is your diagnosis ?

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

  8. 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

  9. Case of the Month 21 Discussion • 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.

  10. Case of the Month 21 Further Reading 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.

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