Results
The probands, a 7-year-old girl and a 10-month-boy, were both born full
term. Their family histories were not remarkable. The elder sister
presented with wet cough and running nose for 2 months and had been
diagnosed with pneumonia and treated for 15 days in a local hospital
without improvement. Her computed tomography (CT) (Fig.1A, C) scanning
of lungs and sinus showed atelectasis and potential bronchiectasis in
the right middle lobe and sinusitis with
hypertrophy of tonsils and
adenoids. Before transferred to the respiratory medicine department of
our hospital, she had suffered from recurrent respiratory tract
infection for almost 5 years. On
physical examination, pharyngeal congestion and swelling of tonsil were
found, with normal growth and development. Her nasal nitric oxide
concentration (nNO) was much lower (38.5ppb) than the PCD-specific nNO
cutoff value (287ppb) [4]. While the pulmonary function tests were
normal. During
bronchoscopy,
massive mucilage secretions were found in segments of
lingula, left upper and right
middle lobes (Fig.1B). The culture of bronchoalveolar lavage (BAL)
showed positive for Haemophilus infuenzae (Hin). The pure-tone
audiometry proved conductive hearing loss. The air-bone gaps were 10dB
to 25dB for the right ear and 15dB to 35dB for the left one. The
otoscope and inner ear CT indicated otitis media in both of her ears,
which was responsible for the hearing loss (Fig.1D, E, F).