No abstract

No abstract

Primary Ciliary Dyskinesia is a rare and genetically heterogeneous disorder characterized by immobility, dysmotility or absence of cilia, causing chronic oto-sino-pulmonary disease. Approximately 50% of patients have situs inversus totalis. Genetically, the most common genes involved are DNAH5 and DNAI1. Newborns with Primary Ciliary Dyskinesia may have respiratory distress with mild transient tachypnoea or mild hypoxemia, rhinitis or atelectasis, usually associated with poor feeding. Six days after birth, a full-term male newborn was admitted to the paediatric emergency department for intermittent respiratory distress, mainly during breastfeeding, associated with nasal congestion and sporadic productive cough. Physical examination revealed acrocyanosis, jaundice and bilateral basal crackles. Preductal pulse oxygen saturation was 90% on room air requiring supplementary oxygen therapy. Chest X-ray demonstrated dextrocardia. Echocardiography confirmed dextrocardia without structural heart disease. Abdominal ultrasound showed the presence of situs inversus totalis, with no other malformations. During the hospitalization nasal congestion, cough and hypoxemia progressively resolved. Coexistence of total situs inversus and unexplained newborn respiratory distress suggested the presence of Primary Ciliary Dyskinesia. Genetic testing showed two different variants of DNAH5 gene confirming the diagnosis. The infant was referred to a Paediatric Pulmonology centre and Paediatric and Otorhinolaryngology outpatient clinic. He also started chest physiotherapy sessions and immunoprophylaxis against respiratory syncytial virus. Although neonatal presentation is unusual, Primary Ciliary Dyskinesia should be considered for neonates presenting with respiratory distress of unclear cause. Early diagnosis is important in order to decrease damage to the respiratory system from recurrent infections and improve the quality of life and prognosis.