Figure 1 Clinical features of the elder sister. The chest high-resolution computed tomography (HRCT) scan showed bronchiectasis and atelectasis in the right middle lobe (A), sinusitis (C) and otitis media (D). Bronchoscopy indicated large amount of mucilage secretions in the right middle lobe. Otoscope findings of otitis media in left ear (E) and the right one (F).
Azithromycin was given to treat Hin and play the anti-inflammatory effect. Budesonide and acetylcysteine for inhalation were given for their anti-inflammation effect and to dilute sputum. As for pulmonary rehabilitation, mechanical vibration sputum expectoration, postural drainage and effective breathing techniques were performed to accelerate mucus clearance from the lungs. During follow-up, she had better symptoms but persistent atelectasis in right middle lung and recurrent sinusitis and otitis media.
The younger brother presented with cough and runny nose for one month. He was diagnosed with pneumonia in both lungs, atelectasis in lingular lobe, sinusitis, otitis media and hypertrophy of adenoids (Fig.2A-F) Physical examination found phlegm sounds by stethoscope, and his growth and development was normal. The pure-tone audiometry proved conductive hearing loss. The air-bone gaps were 40dB to 60dB for the right ear and 30dB to 55dB for the left one. Bilateral tympanotomy with tube placement and adenotomy were performed. His nNO was 32.8ppb, even lower than that of the elder sister. Pulmonary function tests showed obstructive ventilatory dysfunction. Transmission electron microscopy (TEM) of bronchial cilia exhibit complete loss of ODAs and IDAs (Fig.3). Besides, the echocardiography revealed residual left superior vena cava. With the history of emesis, he was diagnosed with intestine malrotation by abdominal ultrasound at 1.5 years old.