Primary ciliary dyskinesia is a rare, genetic disorder resulting of an abnorma l ultrastructural morphology of cilia. Such disease is rarely recognized in neon atal period. We report on a newborn who exhibited unexpla...
详细信息
Primary ciliary dyskinesia is a rare, genetic disorder resulting of an abnorma l ultrastructural morphology of cilia. Such disease is rarely recognized in neon atal period. We report on a newborn who exhibited unexplained respiratory distre ss. The diagnosis of primary ciliary dyskinesia was suggested by the association of bilateral and multiple atelectasis and situs inversus. Diagnosis was confirm ed by three months of age by ultrastructural study of cilia. Primary ciliary dys kinesia is a rare disease. Diagnosis should be considered in unexplained cases o f neonatal respiratory distress, especially when situs inversus totalis and mult iple atelectasis are present. Diagnosis requires ciliary studies that can be per formed in newborn infants.
暂无评论