SESSION TITLE: ILD Global Case Reports
SESSION TYPE: Global Case Report
PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM
INTRODUCTION: Neurofibromatosis type-1 (NF1-von Recklinghausen disease) is an autosomal dominant neuro-cutaneous disorder characterized by multiple neurofibromas, café-au-lait spots, Lish nodules in the iris and axillary freckling. Several respiratory manifestations associated with NF1 include: chest wall deformities, upper-airway obstruction by neurofibromas, parenchymal neurogenic tumors, diffuse lung disease, pulmonary fibroisis, cystic lung disease, primary pulmonary hypertension, central hypoventilation, diaphragmatic palsy. Association of chorinc eosinophilic pneumonia (CEP) in a patient with NF1 is reported once. Here, we report a second case of CEP associated with NF1.
CASE PRESENTATION: A 38 year old male patient, unemployed, non-smoker, presented with progressive dyspnea, cough with mucoid expectoration and history of allergic rhinitis of 2 year duration. On physical examination, multiple hyperpigmented macules (Café-au-lait pigmentation) distributed over trunk and extremities, axillary freckles, and multiple palpable subcutaneous nodules all over the body (neurofibroma) were identified. Chest auscultation revealed inspiratory crackles and rhonchi in both the lung bases. Spirometry showed severe restrictive and obstructive pattern with good reversibility post bronchodilator (FEV1/FVC-87%, FEV1-39%, FVC-45%). Chest X-ray showed bilateral lower zone consolidation with CP angle blunting. Routine blood investigations showed peripheral eosinophilia (3100 cells/µl), raised erythrocyte sedimentation rate (40mm/h), elevated total serum IgE (1289U/ml), increased serum C-reactive protein (58mg/dl). Antinuclear antibody, C- and P- antineutrophilic antibodies, Specific IgE for aspergillus fumigatus were found within normal limits. HRCT chest revealed irregular thin and thick linear band opacities in lower lobes, mild bilateral pleural effusion and pleural thickening. Pleural fluid analysis was exudative with lymphocyte predominance and normal adenosine deaminase (ADA) level (22IU/L). Bronchoscopy showed normal bronchial tree. BAL- differential cell count revealed 60% eosinophils. BAL was sterile and negative for malignant cells. Trans-bronchial biopsy was inconclusive. Eventually, diagnosis of chronic eosinophilic pneumonia with NF1 was made. Patient was started on oral prednisone 40mg/day with close follow up. Patient improved rapidly and chest X-ray showed resolution of shadows with in a one month of oral prednisone which was tapered down over 6 month.
DISCUSSION: We report a second case of NF1 presented with CEP which may suggest an association between these two conditions. NF1 is an autosomal dominant, multisystem disorder which is characterized by café-au-lait spots, pigmented hamartomas in the iris (Lish nodules), multiple neurofibroma. Literatures have reported various pulmonary manifestations associated with NF1 with only one previous case report showing association between NF1 and CEP. CEP is a disease of an unknown etiology characterized by eosinophilic infiltration of lung parenchyma. Diagnosis of CEP can be made by combination of non-specific respiratory symptoms of more than 2 week of duration, bilateral peripheral fleeting pulmonary opacities, peripheral eosinophilia and/or alveolar eosinophilia (blood eosinophil count >1000/mm3, BAL eosinophils >40%) and absence of known etiology for eosinophilia. Katsenos et al postulated the role of nerve growth factor (NGF) in the occurrence of CEP in patient with NF1. The NGF level in both plasma and BAL was significantly high in the case which was reported by Katsenos et al.
CONCLUSIONS: This observation suggests that CEP could be the respiratory association of NF1. We report the second case of NF1 which was associated with CEP. Hence, we strongly recommend considering CEP as a pulmonary association of NF1
Reference #1: Katsenos S, Nikolopoulou M, Rallis E, Constantopoulos S. Chronic eosinophilic pneumonia associated with neurofibromatosis type 1 : an unusual complication. The Journal of Medical Investigation. 2009; 56: 64-69.
Reference #2: Zamora A, Collard H, Wolters P, Webb W, King T. Neurofibromatosis-associated lung disease: a case series and literature review. European Respiratory Journal. 2007; 29(1): 210-214.
Reference #3: Sano S, Yamagami K, Yoshioka K. Chronic eosinophilic pneumonia: a case report and review of the literatures. Cases Journal. 2009; 2:7735. Retrieved from http://casesjournal.com/casesjournal/article/view/7735
DISCLOSURE: The following authors have nothing to disclose: Ashok Arbat, Vinit Niranjane, Sheetal Sinha, Bhavesh Vaghani, Mitesh Dave
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