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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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Recurrent pulmonary tuberculosis in a child with primary ciliary dyskinesia: a rare association

Dhruv Gandhi1, Reepa Agrawal1, Zahabiya Nalwalla1

  • 1Pediatric TB Clinic, Department of Pediatric Infectious Diseases, B. J. Wadia Hospital for Children, Mumbai, India.

Paediatrics and International Child Health
|January 7, 2026
PubMed

Insights

Primary ciliary dyskinesia (PCD) in a child with recurrent pulmonary tuberculosis (PTB) was diagnosed using whole exome sequencing. This case highlights the importance of genetic testing for PCD in pediatric patients with persistent lung issues.

Area of Science:

  • Genetics
  • Pulmonology
  • Infectious Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting ciliary motility, leading to chronic lung infections.
  • Recurrent pulmonary infections, like tuberculosis (PTB), can be challenging in children, especially when associated with underlying conditions.

Purpose of the Study:

  • To report a case of an 8-year-old boy with recurrent PTB and newly diagnosed PCD.
  • To emphasize the role of whole exome sequencing (WES) in diagnosing PCD in pediatric patients with bronchiectasis and recurrent infections.

Main Methods:

  • Case report of an 8-year-old boy with chronic respiratory symptoms and a history of PTB.
  • Diagnosis of PCD confirmed by whole exome sequencing (WES).
  • High-resolution computed tomography (HRCT) for assessing lung structure; Xpert MTB/Rif Ultra for identifying *Mycobacterium tuberculosis*.

Main Results:

  • The patient presented with symptoms of recurrent PTB despite prior treatment.
  • HRCT revealed bronchiectatic changes and chronic suppurative lung disease.
  • WES identified a PCD variant of unknown significance, leading to a PCD diagnosis (PICADAR score 8).

Conclusions:

  • This case underscores the need for clinical suspicion and genetic evaluation (WES) in pediatric patients with recurrent pulmonary TB and bronchiectasis.
  • Diagnosing PCD is crucial for managing chronic suppurative lung disease and preventing further complications.
  • Early identification of PCD can guide appropriate treatment strategies for associated respiratory conditions.

Keywords:
Bronchiectasischronic lung diseasepulmonary tuberculosistuberculosiswhole exome sequencing

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