A Case Of Primary Ciliary Dyskinesia And The İmportance Of Anatomical Side Markers İn Direct Radiography

Abstract

OBJECTIVE: If situs inversus is seen on chest x-ray and the patient's clinic is compatible with primary ciliary dyskinesia (PSD), it should be examined in more detail and screened for siblings in case of PSD. In addition, we aimed to state that even if the directional markers are not used correctly on the chest radiography, even an obvious condition such as situs inversus may be omitted or radiographs may be misinterpreted by the physician. CASE: Twelve years old girl with primary ciliary dyskinesia was evaluated. The presence of recurrent sinopulmonary infection and laterality defect on chest x-ray led to the investigation of PSD and the diagnosis of PSD was confirmed by homozygous variant in CCDC39 gene. CONCLUSION: The literature review shows that some of the radiographs have incorrect or no anatomical direction markers. In our case, if the radiography contains an incomplete directional marker, it may lead to delayed diagnosis and wrong treatment for the patient. Screening of siblings for a genetic disease such as PSD will provide many benefits.

Keywords

• Ciliary Motility Disorders,Genetic Diseases,Congenital Abnormalities

References

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