Acta Scientific Paediatrics (ISSN: 2581-883X)

Case Report Volume 5 Issue 7

Primary Ciliary Dyskinesia: An Uncommon Cause of Neonatal Respiratory Distress

André Costa Azevedo*, Ana Isabel Sequeira, Dalila Rocha, Isabel Soro, Beatriz Sousa and Armando Laranjeira

Neonatal Intensive Care Unit, Pediatrics Department, Unidade Local de Saúde do Alto Minho, Viana do Castelo, Portugal

*Corresponding Author: André Costa Azevedo, Neonatal Intensive Care Unit, Pediatrics Department, Unidade Local de Saúde do Alto Minho, Viana do Castelo, Portugal.

Received: June 08, 2022; Published:


Primary Ciliary Dyskinesia is a rare and genetically heterogeneous disorder characterized by immobility, dysmotility or absence of cilia, causing chronic oto-sino-pulmonary disease. Approximately 50% of patients have situs inversus totalis. Genetically, the most common genes involved are DNAH5 and DNAI1. Newborns with Primary Ciliary Dyskinesia may have respiratory distress with mild transient tachypnoea or mild hypoxemia, rhinitis or atelectasis, usually associated with poor feeding. Six days after birth, a full-term male newborn was admitted to the paediatric emergency department for intermittent respiratory distress, mainly during breastfeeding, associated with nasal congestion and sporadic productive cough. Physical examination revealed acrocyanosis, jaundice and bilateral basal crackles. Preductal pulse oxygen saturation was 90% on room air requiring supplementary oxygen therapy. Chest X-ray demonstrated dextrocardia. Echocardiography confirmed dextrocardia without structural heart disease. Abdominal ultrasound showed the presence of situs inversus totalis, with no other malformations. During the hospitalization nasal congestion, cough and hypoxemia progressively resolved. Coexistence of total situs inversus and unexplained newborn respiratory distress suggested the presence of Primary Ciliary Dyskinesia. Genetic testing showed two different variants of DNAH5 gene confirming the diagnosis. The infant was referred to a Paediatric Pulmonology centre and Paediatric and Otorhinolaryngology outpatient clinic. He also started chest physiotherapy sessions and immunoprophylaxis against respiratory syncytial virus. Although neonatal presentation is unusual, Primary Ciliary Dyskinesia should be considered for neonates presenting with respiratory distress of unclear cause. Early diagnosis is important in order to decrease damage to the respiratory system from recurrent infections and improve the quality of life and prognosis.

Keywords: Ciliary Motility Disorders; Primary Ciliary Dyskinesia; Newborn; Respiratory Distress; Shortness of Breath


  1. Reuter S., et al. “Respiratory distress in the newborn”. Pediatrics in Review 10 (2014): 417-428.
  2. Butterfield R. “Primary Ciliary Dyskinesia”. Pediatrics in Review3 (2017): 145.
  3. Shapiro AJ., et al. “Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review”. Pediatrics Pulmonology2 (2016): 115-132.
  4. Lucas JS., et al. “Diagnosis and management of primary ciliary dyskinesia”. Archives of Disease in Childhood9 (2014): 850-856.
  5. Shoemark A., et al. “International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria)”. European Respiratory Journal (2020): 1900725.
  6. Sousa R., et al. “Primary Ciliary Dyskinesia: Updates on Diagnosis, Follow-Up and Treatment”. Portuguese Journal of Pediatrics 2 (2018): 3.
  7. Mirra V., et al. “Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies”. Frontiers in Pediatrics 5 (2017): 135.
  8. Lucas JS., et al. “European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia”. European Respiratory Journal1 (2017): 1601090.


Citation: André Costa Azevedo., et al. “Primary Ciliary Dyskinesia: An Uncommon Cause of Neonatal Respiratory Distress”. Acta Scientific Paediatrics 5.7 (2022): 00-00.


Copyright: © 2022 André Costa Azevedo., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Acceptance rate33%
Acceptance to publication20-30 days
Impact Factor1.197

Indexed In

News and Events

  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is July 30, 2024.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of "Best Article of the Issue"
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.

Contact US