SCIENTIFIC
Primary Ciliary Dyskinesia Diagnosed in a 75-Year-Old
AUTHORS : Lauren Forchette , OMS-III
Salam Rajjoub , MD
West Virginia School of Osteopathic Medicine
ABSTRACT
A 75-year-old patient presented with recurrent sinusitis , bronchitis , and pneumonia from early childhood well into late adulthood . After years of diagnostic testing , the presence of bronchiectasis upon lung imaging pointed to the eventual definitive diagnosis of primary ciliary dyskinesia ( PCD ). Physician awareness of the diverse presentation of this disorder and its subtypes will help diagnose patients whose condition otherwise would have remained undetected . Here we discuss the presentation , diagnostic testing , and supportive treatment of PCD .
CASE PRESENTATION
A 75-year-old patient presented with recurrent bronchitis and sinusitis for the past six years . Previous medical history included gastroesophageal reflux disease , asthma with multiple exacerbations , multiple lung nodules found on a prior computed tomography ( CT ) scan , allergic rhinitis , and prior sinuplasty . The patient denied a smoking history . Sinusitis and bronchitis had been recurrent throughout the patient ’ s early childhood , improved in adolescence and early adulthood , and progressively worsened over the past six years with constant productive cough and unintentional weight loss of 15 pounds . The patient had been prescribed a course of antibiotics every two months without improvement .
Physical examination on the day of presentation was as follows : a well-appearing individual in no acute distress with normal heart sounds without appreciable murmurs , gallops , or rubs , soft and nontender abdomen , no evidence of peripheral edema , and coarse breath sounds throughout with bibasilar crackles . Results of a CT scan of the chest with contrast were compared to a study done six months prior . Progressing right lung parenchymal opacities were noted in this new study , consistent with chronic intermittent respiratory infections . Tree-in-bud infiltrates were also seen in all the right lung fields . This finding was suggestive of mucus plugging , which led to the assumption that mucus clearance was defective . A follow up CT scan six months later showed slight improvement in the right lung findings . However , evidence of bronchi- ectasis and consolidations in the medial right upper lobe along with ill-defined densities in both lungs were noted . New evidence of bronchiectasis with tree-inbud infiltrates in the left upper lung was present . An acid-fast bacillus smear and culture of the sputum were obtained , which were ultimately negative , along with fungal testing . Serum tuberculosis testing was also negative . A subsequent CT one year later showed bronchiectasis bilaterally in the lung bases , no evidence of lymphadenopathy , and increased densities in the left lower lobe . Figures 1A and 1B provide images of the CT scan findings of bronchiectasis , tree-in-bud infiltrates , and tram tracks . Other unremarkable testing included a basic metabolic panel , complete blood count with differential , urinalysis , and cytoplasmic antineutrophil cytoplasmic antibody and perinuclear anti-neutrophil cytoplasmic antibody screens . After ruling out current infection , immunodeficiencies , and vasculitis , the diagnosis of primary ciliary dyskinesia ( PCD ) was considered , and the patient was referred to an otolaryngologist for a nasopharyngeal biopsy .
The nasopharyngeal biopsy was done 16 months from the original presentation date and revealed that 20 % of cilia had varying numbers of doublets and extra central microtubule pairs , with some showing axonal disorganization and absent inner and outer dynein arms . A fraction of cilia also lacked the central doublet ( Figure 2 ). The biopsy findings were consistent with a diagnosis of PCD .
FIGURE 1A
A CT scan of the chest ( coronal view ) demonstrating right upper lung bronchiectasis and tree-in-bud infiltrates in the right lower lung .
FIGURE 1B
A CT scan of the chest ( sagittal view ) demonstrating tram track infiltrates .
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