11 June 2020 : Case report
Challenging differential diagnosis, Congenital defects / diseasesArlete Esteves Lopes Primo1BCDEF*, Romy Schmidt Brock Zacharias1CD, Amanda Dias de Moraes1AB, Luiz Vicente Ribeiro Ferreira da Silva Filho12DEF, Daniela Rodriguez Trujillo1E, Renata de Araújo Monteiro Yoshida1D, Arno Noberto Warth1D, Celso Moura Rebello1ADE
Am J Case Rep 2020; 21:e921949
BACKGROUND: 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, Administration, Inhalation, Continuous Positive Airway Pressure, Diagnosis, Differential, Infant, Newborn, Male, Respiratory Distress Syndrome, Newborn
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