EJMCR |

Case Report

Published: Sep 05, 2025 | DOI: 10.24911/ejmcr.9-2284

Primary Ciliary Dyskinesia: when clinical suspicion meets genetics

Authors: Catia Juliana Magalhaes da Silva , Sofia Poco Miranda , Sara Fernandes , Andre Costa e Silva , Ines Magalhaes , Juliana Maciel

Article Info

Authors

Catia Juliana Magalhaes da Silva

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

ORCID

Sofia Poco Miranda

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

ORCID

Sara Fernandes

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

Andre Costa e Silva

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

Ines Magalhaes

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

Juliana Maciel

Department of Pediatrics, Hospital de Santa Luzia, Unidade Local de Saúde do Alto Minho, Viana do Castelo 4900-408, Portugal.

Publication History

Received: July 13, 2025

Accepted: September 02, 2025

Published: September 05, 2025

Abstract

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by structural and/or functional abnormalities of motile cilia. It typically presents with neonatal respiratory distress, recurrent respiratory infections and sometimes laterality defects, which define Kartagener syndrome. Diagnosis is often delayed due to nonspecific symptoms.

Case Presentation: A 10-year-old female was referred to pediatric allergy consultation for perennial nasal obstruction and impaired growth. Her history included neonatal respiratory distress, hydrocephalus, situs inversus totalis, recurrent otitis media with hearing impairment and chronic rhinosinusitis. Genetic testing by whole-exome sequencing revealed a previously undescribed heterozygous frameshift variant in FOXJ1 (c.929_932del p.Asp310Glyfs*22), a gene crucial for motile cilia function and associated with autosomal dominant PCD. Chest computed tomography showed extensive bronchiectasis. She started multidisciplinary treatment including airway clearance, additional immunizations and prophylactic azithromycin.

Conclusion: This case reinforces the importance of clinical suspicion for PCD when faced with characteristic symptoms to achieve early diagnosis and intervention. Identification of a novel FOXJ1 variant expands the genotypic spectrum of PCD, provides insight into genotype-phenotype correlations and has important implications for genetic counseling and family planning due to its autosomal dominant inheritance. Early diagnosis and comprehensive management are essential to prevent progression and improve quality of life.

Keywords: Case report, Primary Ciliary Dyskinesia, Kartagener's syndrome, Situs inversus totalis, Bronchiectasis, Sinusitis

Pubmed Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel. Primary Ciliary Dyskinesia: when clinical suspicion meets genetics. EJMCR. 2025; 05 (September 2025): -. doi:10.24911/ejmcr.9-2284

Web Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel. Primary Ciliary Dyskinesia: when clinical suspicion meets genetics. https://ejmcr.com/index.php/articles/2284 [Access: September 10, 2025]. doi:10.24911/ejmcr.9-2284

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel. Primary Ciliary Dyskinesia: when clinical suspicion meets genetics. EJMCR. (2025), [cited September 10, 2025]; 05 (September 2025): -. doi:10.24911/ejmcr.9-2284

Harvard Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel (2025) Primary Ciliary Dyskinesia: when clinical suspicion meets genetics. EJMCR, 05 (September 2025): -. doi:10.24911/ejmcr.9-2284

Chicago Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel. "Primary Ciliary Dyskinesia: when clinical suspicion meets genetics." 05 (2025), -. doi:10.24911/ejmcr.9-2284

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Catia Juliana Magalhaes da Silva, Sofia Poco Miranda, Sara Fernandes, Andre Costa e Silva, Ines Magalhaes, Juliana Maciel (2025) Primary Ciliary Dyskinesia: when clinical suspicion meets genetics. , 05 (September 2025), -. doi:10.24911/ejmcr.9-2284