Kartagener syndrome: neonatal diagnosis. A case report

• Published in: Archivos argentinos de pediatría Vol. 117; no. 3; pp. e292 - e296
• Main Authors: Pérez Crespo, Ma Del Rocío, Fariñas Salto, Mercedes, Chacón Aguilar, Rocío, Navas Carretero, Adriana, Sanavia Morán, Eva, Albi Rodríguez, Salomé, Pérez-Moneo Agapito, Begoña
• Format: Journal Article
• Language: Spanish
• Published: Argentina 01.06.2019
• Subjects: Ciliary Motility Disorders - diagnosis; Diagnosis, Differential; Female; Humans; Infant, Newborn; Kartagener Syndrome - diagnosis; Kartagener Syndrome - genetics; Kartagener Syndrome - physiopathology; Situs inversus; Newborn respiratory distress syndrome; Kartagener syndrome; Primary ciliary dyskinesia
• ISSN: 1668-3501
• DOI: 10.5546/aap.2019.e292

Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. The diagnosis is often delayed because of these reasons and limitations and no availability of diagnostic tests. Early diagnosis and treatment change patient's prognosis. In addition, Scientific Societies have published recent diagnostic algorithm to evaluate the patient with suspected primary ciliary dyskinesia. Therefore, it is important to keep up to date with all the latest articles. We present the case of a newborn with this syndrome diagnosed by genetic analysis in a secondary care hospital.