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Primary ciliary dyskinesia with situs inversus totalis
Vanaparthy Lahari Priyadarshini1, Thirunavukkarasu Arun Babu2
1Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India.
BMJ Case Reports
|September 29, 2025
Summary
A rare genetic disorder, primary ciliary dyskinesia (PCD), was diagnosed in an adolescent male with recurrent respiratory symptoms. Whole exome sequencing identified an ODAD1 gene mutation, confirming PCD.
Area of Science:
- Medical Genetics
- Pulmonology
- Rare Diseases
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
- Patients often present with recurrent respiratory infections and situs inversus.
- Early diagnosis is crucial for managing complications.
Purpose of the Study:
- To diagnose primary ciliary dyskinesia (PCD) in an adolescent male with suggestive symptoms.
- To identify the genetic cause of PCD in this patient.
- To highlight the role of genetic sequencing in diagnosing rare ciliopathies.
Main Methods:
- Clinical presentation analysis including abdominal pain, cough, fever, and dextrocardia.
- Imaging studies to confirm situs inversus totalis.
- Whole exome sequencing to identify genetic mutations.
Main Results:
- The patient presented with symptoms consistent with PCD and confirmed dextrocardia and situs inversus totalis.
- Laboratory tests revealed direct hyperbilirubinaemia.
- Whole exome sequencing identified a mutation in the ODAD1 gene, confirming the diagnosis of PCD.
Conclusions:
- ODAD1 gene mutations are associated with primary ciliary dyskinesia (PCD).
- Genetic sequencing is a valuable tool for diagnosing PCD, especially in complex cases.
- This case underscores the importance of considering rare genetic disorders in adolescents with recurrent respiratory symptoms and congenital anomalies.
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