A 15-year-old non-smoking Japanese female was admitted to our hospital because of the symptoms of productive cough and dyspnea on exertion, which appeared 6 months before admission. She had been diagnosed with alopecia universalis as a 1-year-old, and was hospitalized for 1-2 weeks for recurrent lower respiratory tract infections at the ages of 1, 4, and 10 years old. At 12 years old, she was treated for chronic sinusitis by antibiotics and some mucolytic agents.
The physical examination on admission revealed a body temperature of 36.6  C, blood pressure of 99/56 mmHg, and regular pulse of 87 beats/min. The skin was normal apart from the absence of hair, and lung auscultation revealed coarse crackles in the right chest. The results of the laboratory data, an arterial blood gas analysis on room air and a pulmonary function test on admission showed a white blood cell count of 8800/muL; hemoglobin, 9.7 g/dL; cold agglutinin x 64; pH, 7.43; PaCO2, 42 Torr; PaO2, 96 Torr; vital capacity (VC), 2.18 L; %vital capacity (%VC), 75.2%; forced expiratory volume in one second (FEV1.0), 1.51 L; and forced expiratory volume % in one second (FEV1.0%), 67.9%. Reversibility of airway obstruction was not noted in the patient.
A chest X-ray revealed cystic changes with an air-fluid level localized in the right lower lung field (Fig. 1A). The chest CT scan on admission showed complex cystic lesions with an air-fluid level in the right lower lobe, and diffuse centrilobular nodules in the whole lobe of the lung (Fig. 2A). On flexible bronchoscopy examination, sputum and bronchoalveolar lavage fluid (BALF) cultures revealed methicillin-sensitive Staphylococcus aureus (S. aureus) which was sensitive to clarithromycin (the minimal inhibitory concentration is < 2.0 mug/mL). The differential cell counts of BALF obtained from the medial segmental bronchus and the CD 4/8 ratio were as follows: total cell count, 3.77 x 105/mL; alveolar macrophages, 2.46 x 105 (65.3%); neutrophils, 0.58 x 105 (15.4%); lymphocytes 0.73 x 105 (19.3%); and CD 4/8 ratio, 1.8. The pathologic examination of transbronchial lung biopsy (TBLB) specimens obtained from the lateral segmental bronchus demonstrated noncaseating granuloma in the alveolar spaces and neutrophil infiltration (Fig. 1B). No acid-fast bacilli were detected by Ziehl-Neelsen staining of TBLB specimens and culture of BALF. An electron microscopic examination of the biopsy specimens obtained from the bronchial mucosa showed deficiency of the inner dynein arm in the cilia (Fig. 1C). Left nasal polyps were detected by CT scan. Based on these findings, we diagnosed the patient with PCD.
Treatment with clarithromycin (400 mg/day) was commenced 2 weeks after admission and was continued for 6 months. As a result of the treatment, there was improvement in the patient's symptoms of productive cough and dyspnea on exertion, and in pulmonary function (VC, 2.59 L; %VC, 87.2%; FEV1.0, 2.15 L; and FEV1.0%, 80.1%). In addition, the 6-month chest CT scan revealed that the diffuse nodular shadows and the fluid in cystic lesions were diminished (Fig. 2B), whereas CT angiography demonstrated an aberrant systemic artery arising from the celiac trunk and supplying the cystic mass lesions with systemic blood flow (Fig. 2C). The cystic lesions were located in the normal lobe and lacked their own pleural covering.
These results indicated that this patient, diagnosed with PCD, was also affected by ILS. A right lower lobectomy and closure of the anomalous systemic artery was performed by video-assisted thoracic surgery. The aberrant artery arising from the celiac trunk, and penetrating the right lower lobe, was detected in the right pulmonary ligament. After isolation and cutting of the aberrant artery, a right lower lobectomy was performed.
The diagnosis of ILS with PCD was based on the macroscopic and microscopic appearance of specimens obtained from the patient's resected lung that showed multiple cystic lesions without pleural covering and an aberrant artery penetrating the right lower lobe (Fig. 3A,B).
At present, 3 months after the surgery, the patient is free from respiratory symptoms such as dyspnea and cough.