J Korean Soc Radiol.  2010 Oct;63(4):379-382.

Neurofibromatosis Type I presenting with Spontaneous Pneumothorax: A Case Report

• Shin SY
• Lee YK
• Moon AL
• Sung DW

Abstract

Neurofibromatosis type I is an autosomal dominant disease with variable clinical manifestations related to dermatologic, neurologic, skeletal, and endocrine system. Lung parenchymal involvement such as lung fibrosis and massive bullous emphysema is infrequent. Here, we report on a 36-year-old man with symptoms of dyspnea, and who has a spontaneous pneumothorax, multiple bullae, and pathologically confirmed neurofibromatosis type I.

MeSH Terms

Adult
Blister
Dyspnea
Emphysema
Endocrine System
Fibrosis
Humans
Lung
Neurofibromatoses
Neurofibromatosis 1
Pneumothorax

Figure

• 

  Fig. 1 A. Chest radiograph shows the large, well-demarcated lucent area devoid of lung markings in left hemithorax without tracheal deviation or mediastinal shifting and with the visceral pleural line (arrows). Note the large thin-walled cyst in right upper lung zone (asterisk). B-D. Axial chest CT scans show multiple thin-walled bullae with predominant distribution in the both upper lobes (B, C). Axial chest CT scan shows multiple thin-walled cysts in both lower lobes and atelectasis in left lower lobe. Small left pneumothorax (arrow) and left tube thoracostomy are noted (D). E. The microscopic examination shows tumor cells with a wavy, spindle appearance in a myxoid matrix (H & E stain, × 100).

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