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, Respiratory Distress Syndrome, Newborn
21 Sep 2023 : Case reportSuccessful Outpatient Treatment of Severe Diabetic-Foot Myositis and Osteomyelitis Caused by Extensively Dr...
Am J Case Rep In Press; DOI: 10.12659/AJCR.941337
21 Sep 2023 : Case reportFulminant Lymphocytic Myocarditis Successfully Managed with Intra-Aortic Balloon Pump and Extracorporeal Me...
Am J Case Rep In Press; DOI: 10.12659/AJCR.941422
21 Sep 2023 : Case reportEmphysematous Cystitis: A Rare Urologic Emergency
Am J Case Rep In Press; DOI: 10.12659/AJCR.941599
Most Viewed Current Articles
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441