Neonatal diagnosis of the immotile cilia syndrome

The immotile cilia syndrome is an inherited disorder characterized by inappropriate motility of the cilia. The clinical symptoms include recurrent sinopulmonary infections and reduced fertility. In about half of the cases, situs inversus is encountered. The case presented is of a two-day-old boy in whom diagnosis was based on ultrastructural abnormalities. Early diagnosis permitted immediate symptomatic treatment and an absence of infections during a 37-month period of observation. Nasal biopsies performed in six newborns with various degrees of respiratory distress secondary to classic neonatal respiratory problems and in a healthy one-day-old newborn demonstrated the presence of normal ciliary structures at birth. In cases without situs inversus, diagnosis of the immotile cilia syndrome may be difficult. The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome.