Relationship between Usher Syndrome and Ciliary Dysfunction in a pregnant woman with Multidrug-resistant Pneumonia: A Case Report and Literature Review

Abstract Introduction/Objective Usher syndrome is a rare genetic disorder that consists of auditory and visual disturbances, affecting approximately 4-17 per 100,000 people. In the airways, cilia function in concert with airway mucus for mucociliary clearance, cleansing the airways of inhaled particles and pathogens. Ciliary dysfunction could lead to recurrent pulmonary infections, including from organisms resistant to more than one antibiotic. Few cases have been reported in the literature suggesting a relationship between usher syndrome and ciliary dysfunction. Hence, we would like to report an autopsy case of multidrug-resistant bacterial pneumonia in a pregnant patient with usher syndrome, discussing the possible relationship between usher syndrome, ciliary dysfunction, and multidrug-resistant pneumonia in pregnancy. Methods/Case Report We present a 31-year-old pregnant woman with a history of usher syndrome, hypothyroidism, and hydrocephalus presenting with shortness of breath, cough, and acute respiratory distress syndrome. She further developed refractory hypoxemia and hypercapnia complicated by multidrug-resistant bacteria infection, then intubated. Despite further management of the refractory respiratory failure, she showed no improvement. She was eventually placed on comfort care and died 49 days after she was admitted. Results (if a Case Study enter NA) At autopsy, the pleural surface has exudates and fibrotic adhesion. Both lungs are congested and have consolidations with variable severity on all lobes of both lungs. Microscopically, the most striking finding is the mucin accumulation in large and small airways, even in dilated alveolar spaces. There is evidence of chronic lung injury with significant interstitial fibrosis, diffuse peri-bronchial epithelial metaplasia, also with mucin accumulation. The respiratory epithelium has cilia present. Conclusion Although cilia were present microscopically, their function was not ascertained. The increase in progesterone during pregnancy inhibits cilia beat frequency. Therefore, the hormonal state of pregnancy and the proposed ciliary dysfunction in usher syndrome may worsen the severity of pulmonary infections seen in this patient and eventually caused her death.