Disorders of the Pleura |

Neurofibromatosis With Recurrent Spontaneous Pneumothorax FREE TO VIEW

Seher Satar; Aysenaz Ozcan; Tugba Kara; Sema Canbakan
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Chest Physician, Ankara, Turkey

Chest. 2015;148(4_MeetingAbstracts):433A. doi:10.1378/chest.2235522
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SESSION TITLE: Disorders of the Pleura Global Case Reports

SESSION TYPE: Global Case Report Poster

PRESENTED ON: Tuesday, October 27, 2015 at 01:30 PM - 02:30 PM

INTRODUCTION: Neurofibromatosis(NF); is a genetic heterogeneous disease of nervous system, skin, eyes, lungs and skeletal system. NF is classified in two groups of NF1 and 2. NF-1 is the most common form and affects 1 in about 4000 births in the world (1)

CASE PRESENTATION: We present a patient from our clinic who is diagnosed with Neurofibromatosis and recurrent spontaneous pneumothorax. Our patient was 28 years old male who had received the diagnosis of pneumothorax for two times. He is an active smoker and suffering from chest pain, shortness of breath and trembling hands. His first degree family history revealed malignancies. His mother and sister have the similar skin lesions. Physical examination findings are decreased breath sounds, bilateral axillary freckling, café au lait spots from 6 to 15 mm and multiple neurofibromas. We performed Computed Tomography(CT) and revealed multiple air cysts measuring up to 25x13 mm in the upper lobes. Cranial CT revealed subcutaneous nodules on the right parietal and left frontal region. After the EMG VEP (visuel evoked potential), P100 latency in the study was normal. On the eye examination, bilateral Lisch nodules of the iris and congenital subcapsular cataracts were detected. Also he has a slight mix-type hearing loss in the right ear detected by audiometric evaluation. So we recommend smoking cessation and control chest CT scannings at regular intervals.

DISCUSSION: Neurofibromatosis is a rare but important disease. Thoracic manifestations of the disease include intrathoracic neurogenic tumors, meningoceles, kyphoscoliosis and pulmonary fibrosis. Chest radiographic findings of these patients are large apical asymmetric thin-walled bullae (73%) and subpleural reticular abnormality (61%). There is a relationship between neurofibromatosis and interstitial lung disease. Honeycombing may be seen in neurofibromatosis rarely. Some investigators suggest that the pulmonary parenchymal disease of neurofibromatosis is attributed to a mesenchymal defect, resulting in primary deposition of collagen. Also, it has been suggested that neurofibromatosis may increase the sensitivity of the lungs to cigarette smoke which cause the early development of emphysema-like changes. So smoking is a risk factor for the development and severity of diffuse lung diseases in neurofibromatosis.

CONCLUSIONS: As a result, because neurofibromatosis is a rare disease and may predispose to the tumor growth of the nervous system or other organs (2); careful long-term follow up after dignosis is therefore required (3).

Reference #1: Pivnick EK, Riccardi VM. The neurofibromatosis. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB, eds. Fitzpatrick’s Dermatology in General Medicine. 5 th ed. New York: Mc Graw-Hill; 1999. p.2152-8.

Reference #2: Hirsch NP, Murphy A, Radcliffe JJ. Neurofibromatosis: Clinical presentations and anaesthetic implications. Br J Anaesth 2001; 86: 555-64

Reference #3: Gawlewicz-Mroczka A, Mastalerz L, Nizankowska-Mogilnicka E. Neurofibromatosis type 1 in an adult diagnosed by a pulmonologist. Pneumonol Alergol Pol 2009;77:474-8

DISCLOSURE: The following authors have nothing to disclose: Seher Satar, Aysenaz Ozcan, Tugba Kara, Sema Canbakan

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