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.