Related Experiment Video

Updated: Nov 3, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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A Case of Primary Ciliary Dyskinesia Caused by a Mutation in OFD1, Which Was Diagnosed Owing to Clostridium difficile

Rina Hasegawa1, Shinji Suzuki1, Shigeo Nishimata1

  • 1Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan.

Pediatric Reports
|June 2, 2021
PubMed

Insights

Primary ciliary dyskinesia (PCD) was diagnosed in a child with recurrent infections and Clostridium difficile (CD) colitis. Early diagnosis of PCD is crucial for children with persistent respiratory and ear issues.

Area of Science:

  • Pediatrics
  • Genetics
  • Infectious Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting ciliary function, leading to recurrent respiratory infections.
  • Diagnosis can be challenging due to overlapping symptoms with other conditions.
  • Prolonged antibiotic use for recurrent infections can sometimes mask or complicate the diagnosis of underlying PCD.

Observation:

  • A 5-year-old boy presented with intractable otitis media with effusion, abdominal pain, and diarrhea following antibiotic treatment.
  • Stool analysis confirmed Clostridium difficile (CD) infection, which resolved with vancomycin.
  • The patient had a history of frequent pneumonia, prompting further investigation.

Findings:

  • Electron microscopy of nasal mucosa and genetic testing confirmed a diagnosis of primary ciliary dyskinesia (PCD).
  • The patient's symptoms were initially attributed to recurrent infections and CD colitis, highlighting diagnostic challenges.

Implications:

  • This case underscores the importance of considering PCD in children with recurrent respiratory infections, otitis media, and gastrointestinal issues, especially after prolonged antibiotic exposure.
  • Early identification of PCD is vital for appropriate management and to prevent long-term complications.
  • Healthcare providers should maintain a high index of suspicion for PCD in pediatric patients with persistent, unexplained symptoms suggestive of ciliary dysfunction.

Keywords:
NODALOMEantibiotic exposureciliary dysfunction

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