JP is a 12-month-old male, born at 39 weeks' gestation. The pregnancy was significant for the diagnosis of situs inversus totalis in the fetus during gestation.
At birth, JP had tachypnea and required supplemental oxygen and close observation in the neonatal intensive care unit. Due to the presence of meconium-stained fluid during delivery, JP was diagnosed with suspected meconium aspiration. He was treated with IV antibiotics for one week. He was discharged to home at age 2 weeks, breathing in room air, but with a persistent cough. Budesonide twice daily was prescribed by the discharging neonatologist.
At age 5 weeks, when his cough improved, his budesonide dose was decreased to once daily. Subsequently, his cough worsened, and gastroesophageal reflux was suspected. JP was started on ranitidine; however, his cough persisted. The budesonide dose was again increased to twice daily. The parents also noted significant nasal congestion. JP’s physicians referred him to CHOP Pulmonary for further diagnostic evaluation.
Evaluation and diagnosis at CHOP
Given the clinical presentation of respiratory distress at birth, persistent nasal congestion, persistent cough, and situs inversus totalis, a diagnosis of primary ciliary dyskinesia (PCD) was suspected. Genetic testing revealed JP is homozygous for the c.10815delT pathogenic mutation in the DNAH5 gene, confirming the PCD diagnosis.
JP has been started on a regimen of daily airway clearance, including inhaled albuterol and hypertonic saline, followed by chest physiotherapy twice daily. An upper GI series was recommended to rule out malrotation of the gastrointestinal tract. He continues to be seen by Primary Ciliary Dyskinesia Program at CHOP.