Challenging differential diagnosis, Congenital defects / diseases
Arlete Esteves Lopes Primo, Romy Schmidt Brock Zacharias, Amanda Dias de Moraes, Luiz Vicente Ribeiro Ferreira da Silva Filho, Daniela Rodriguez Trujillo, Renata de Araújo Monteiro Yoshida, Arno Noberto Warth, Celso Moura Rebello
Department of Pediatrics, Hospital Israelita Albert Einstein, São Paulo, Brazil
Am J Case Rep 2020; 21:e921949
Available online: 2020-04-14
Primary ciliary dyskinesia (PCD) is a disease characterized by motor ciliary dysfunction, which leads to the accumulation of secretions in the lower airways and, consequently, to atelectasis and repeated infections. During the neonatal period, diagnosis can be difficult because the symptoms are frequently associated with other respiratory diseases common in neonates. The laterality defects should warn the clinician of the need for further investigation using clinical criteria, but the confirmation depends on a genetic test.
CASE REPORT: The objective of this report is to present a case of PCD manifesting in the neonatal period that was diagnosed due to respiratory failure associated with recurrent atelectasis and situs inversus totalis.
CONCLUSIONS: This disease is not well known by neonatologists, but early diagnosis decreases morbidity and improves patient quality of life.
Keywords: Ciliary Motility Disorders, pulmonary atelectasis, Situs Inversus