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Allergy and Airway |

Intrabronchial Neurofibromatosis

Venugopal Panicker*, MD; Raseela Karunakaran, MD
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Govt TD Medical College, Alappuzha, India


Chest. 2012;142(4_MeetingAbstracts):13A. doi:10.1378/chest.1369876
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Abstract

SESSION TYPE: Airway Global Case Report Posters

PRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PM

INTRODUCTION: Even though mediastinal neurofibromas are common, intrapulmonary neurofibromas are rare. Nodular shadows in the chest x-rays of neurofibromatosis are often due to the lesions in the chest wall. In this paper, we present a case of intrathoracic neurofibroma with intrabronchial extension. Lesions extending into the bronchial lumen making bronchoscopic diagnosis possible, as in this case is extremely rare.

CASE PRESENTATION: A 24 year old female presented with cough and breathlessness of 1 month duration. She had extensive neurofibromatosis. The chest X-ray showed multiple nodular shadows in the right hemithorax with left pleural effusion . CT thorax confirms that the nodules are intrapulmonary in location. Fiber optic Bronchoscopy revealed multiple nodular swellings in the both main bronchi partially compressing the lumen. Multiple biopsies were taken from these endobronchial lesions. The histopathology picture of bronchoscopic biopsy specimen was consistent with neurofibroma in the airways.

DISCUSSION: Neurofibromas are benign tumors arising from neural crest cells and may arise in any peripheral nerve. They can be solitary or multiple (Neurofibromatosis). The tumors may cause subcutaneous nodules, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems. Neurogenic tumors account for about 9% of primary mediastinal masses in adults and 30% of mediastinal tumors in children. Neurofibromas may involve the mediastinum extensively and can become quite large and have pressure effects on thoracic structures like trachea, superior vena cava and oesophagus2. They typically appear as well-marginated, smooth, round or elliptic masses in the paravertebral regions or along the course of the vagus, phrenic, recurrent laryngeal or intercostal nerves. In CT, they appear as well-defined subcutaneous neurofibromas, focal thoracic scoliosis, posterior vertebral scalloping, enlarged neural foramina, and characteristic rib abnormalities due to bone dysplasia or erosion from adjacent neurofibromas. They show variable contrast material enhancement and may calcify. They can result in diffuse mediastinal widening and may mimic lymphoma, sarcoid, lymphangiomatosis, and metastatic disease3. However, neurogenic benign tumors arising from the trachea and bronchus are relatively rare. Hidemi Suzuki4 et al have reported three cases of neurofibroma of the bronchus which were successfully treated by transbronchial electrical snaring and Nd-YAG laser abrasion. NF-associated ILD Neurofibromatosis with diffuse lung disease is a distinct clinical entity, characterized by upper lobe cystic and bullous disease and basilar fibrosis. Pulmonary function tests show either an obstructive or a restrictive defect, and a decreased DLCO is almost always present. HRCT appearance in NF-DLD commonly report large apical asymmetric thin-walled bullae, cystic changes and emphysema5. Histopathology is consistent with nonspecific idiopathic pneumonia (NSIP) pattern. Because there is no cure for neurofibromatosis, the only therapy is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths; in these cases, chemotherapy may be successful.

CONCLUSIONS: Even though mediastinal neurofibromas are common, intrapulmonary neurofibromas are very rare. In this paper, we present a case of intrathoracic neurofibroma with intrabronchial extension. Lesions extending into the bronchial lumen making bronchoscopic diagnosis possible, as in this case is extremely rare. The case is presented because of its rarity.

1) Marchuk DA, et al. DNA Cloning of the Type-1 Neurofibromatosis Gene - Complete Sequence of the NF1 Gene Product. Genomics 11:931-940.

2) R El Oakley G J Grotte Progressive tracheal and superior vena caval compression caused by benign Neurofibromatosis, Thorax 1994; 49:380-381.

3) Brian J. Fortman, Brian S. Kuszyk,Bruce A. Urban, and Elliot K. Fishman. Neurofibromatosis Type 1: A Diagnostic Mimicker at CT, May 2001 RadioGraphics, 21,601-612.

DISCLOSURE: The following authors have nothing to disclose: Venugopal Panicker, Raseela Karunakaran

No Product/Research Disclosure Information

Govt TD Medical College, Alappuzha, India

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