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Mycobacterium avium Complex Infection Presenting as an Endobronchial Lesion in a 2 Year Old Child With a Novel Mutation in the IFNGR1 Gene FREE TO VIEW

Steven Khov, DO; George McSherry, MD; Gavin Graff, MD
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Penn State Milton S Hershey Medical Center, Hershey, PA

Chest. 2013;144(4_MeetingAbstracts):204A. doi:10.1378/chest.1704191
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SESSION TITLE: Infectious Disease Cases IV

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Tuesday, October 29, 2013 at 07:30 AM - 09:00 AM

INTRODUCTION: Endotracheal and endobronchial lesions in the pediatric population are rare. Mycobacterium Avium Complex (MAC) is an opportunistic organism most commonly found in patients who are immunosuppressed. Endobronchial lesions with MAC infections are rare. We present a case of a 2 year old male with endobronchial lesions due to MAC infection who subsequently was found to have a novel mutation in his IFNGR1 gene.

CASE PRESENTATION: A 2 year old male in previous good health presented with intermittent fevers and associated wheezing. He was initially treated for presumptive pneumonia with antibiotics and steroids. His fevers responded to antibiotics. In between episodes of fevers, he had intermittent wheezing which was treated as asthma, with inhaled corticosteroids. His wheezing did not resolve completely. He was subsequently referred for admission secondary for failure to respond to his outpatient therapies. Chest radiographs demonstrated left upper lobe opacity along with mediastinal adenopathy. Bronchoscopy revealed endobronchial masses in multiple segmental bronchi. Biopsy and lavage were positive for Mycobacterium avium complex. Multiple rigid bronchoscopies were performed for mechanical debridement to reduce disease burden. He was started on a multi-antibiotics regiment therapy for MAC. Immunodeficient workup was normal however a novel mutation in the IFNGR1 gene was identified. The child improved and not have any reoccurrence of symptoms.

DISCUSSION: Endobronchial lesions in the pediatric populations are rare, with a wide variety of pathology, ranging from malignant to benign lesions. MAC endobronchial lesions are exceedingly rare. There are a few case reports of Endobronchial lesions due to MAC infection in patients with AIDS. This case represents a supposedly healthy 2 year old male with recurrent pneumonias due to multiple endobronchial lesions, with subsequent workup showing MAC infection. Given the rare presentation of this disease, an extensive immunodeficiency workup was done, demonstrating a novel mutation of the IFNGR1 gene, which is associated with Interferon Gamma Receptor Deficiency. Mutation in these genes results in granulocytes having difficulty in responding to mycobacterium and Salmonella infections.

CONCLUSIONS: When endobronchial lesions due to MAC infections are found, we recommend a thorough workup to include IFNGR1 gene mutations that predispose them to more invasive MAC infections.

Reference #1: Dorman SE, Picard C, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004 Dec 11-17;364(9451):2113-21

Reference #2: Roby BB, Drehner D, Sidman JD. Pediatric tracheal and endobronchial tumors: an institutional experience. Arch Otolaryngol Head Neck Surg. 2011 Sep;137(9):925-9

Reference #3: Auld B, Urquhart D, Walsh M, Nourse C, Harris MA. Blurring the lines in interferon {gamma} receptor deficiency: an infant with near-fatal airway disease. Pediatrics. 2011 May;127(5):e1352-5

DISCLOSURE: The following authors have nothing to disclose: Steven Khov, George McSherry, Gavin Graff

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