Pediatrics |

A New Picture: An Old Disease FREE TO VIEW

Prashanth Thalanayar, MD; Fernando Holguin, MD
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University of Pittsburgh Medical Center, Mckeesport, PA

Chest. 2014;145(3_MeetingAbstracts):435A. doi:10.1378/chest.1834947
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SESSION TITLE: Congenital Disorder Case Report Posters

SESSION TYPE: Case Report Poster

PRESENTED ON: Sunday, March 23, 2014 at 01:15 PM - 02:15 PM

INTRODUCTION: Primary ciliary dyskinesia(PCD) is a well-known congenital disorder manifesting in infancy to childhood in 70-80% cases, with the rest being diagnosed in their second decade. The ciliary dysfunction affects the upper and lower respiratory apparatus leading to recurrent sinus infections, pneumonias and irreversible processes including bronchiectasis usually before reaching adulthood.

CASE PRESENTATION: We present a 27-year-old caucasian woman with h/o asthma, recurrent sinusitis and chest colds since childhood who presented to the ER in 2011 with cough and yellow sputum. Chest xray revealed left lower lobe pneumonia and she was treated with azithromycin as outpatient. Despite completing treatment, cough persisted and she got admitted to the hospital 2 months later with similar symtpoms along with a fever and respiratory failure. CT chest revealed right middle lobe bronchiectasis along with alveolar 'tree-in-bud' opacities in bilateral lower lobes. She was discharged home after completing treatment with piperacillin-tazobactam when she showed symptomatic improvement. During the whole of 2011, she continued to have multiple readmissions for shortness of breath and productive cough, and bronchiectasis progressed into the lower lobes. Bronchoscopy lavage revealed growth of pseudomonas and viridans streptocci in culture and the pathology from the transbronchial biopsies showed prominent B cell submucosal nodules with chronic inflammatory infiltration- consistent with follicular bronchiolitis. No granulomas were reported. Investigation for cystic fibrosis, aspergillosis, hypogammaglobulinemia, immunodeficiency, rheumatoid arthritis, lupus and connective tissue disorders were negative. Eventually, bronchoscopic carinal biopsies were done, which showed no ciliary beat. Electron microscopy of the respiratory epithelium revealed PCD with the lack of outer dynein arms.

DISCUSSION: PCD is associated with different levels of severity of ciliary abnormality and pulmonary manifestations. However, the age at diagnosis usually does not prolong beyond adolescence. Misdiagnosis with other similar conditions leading to a delayed correct diagnosis is common and our case represents one such scenario. However, the presence of follicular bronchiolitis is usually indicative of connective tissue disorder like Sjogren syndrome or rheumatoid. MEDLINE search revealed no previous reports of a follicular bronchiolitis histopathology seen with PCD.

CONCLUSIONS: The association of follicular bronchiolitis with PCD has not been reported in literature. This may suggest a newer vision towards underlying mechanisms and treatment for bronchiectasis noted in this subset of PCD patients. Unlike PCD, diseases with follicular bronchiolitis respond well to immunosuppressive drugs targeted at the underlying disorder.

Reference #1: Leigh MW, Pittman JE, Carson JL et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87.

DISCLOSURE: The following authors have nothing to disclose: Prashanth Thalanayar, Fernando Holguin

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