Authors: Cátia J Silva , Sofia P Miranda , Sara Fernandes , André C Silva , Inês Magalhães , Juliana Maciel

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