A Rare Clinical Presentation in a Patient with Primary Ciliary Dyskinesia: Brain Abscess


Yanar A. N., Erdoğan C., Ayar I., Kızılaslan D.

24 th International Intensive Care Symposium, İstanbul, Turkey, 5 - 06 May 2023, pp.67-68

  • Publication Type: Conference Paper / Full Text
  • City: İstanbul
  • Country: Turkey
  • Page Numbers: pp.67-68
  • Istanbul Medipol University Affiliated: Yes

Abstract

Introduction: Primary ciliary dyskinesia (PCD) is an autosomal recessive inherited disease characterized by airway mucociliary clearance dysfunction. The clinical phenotype is very diverse in all age groups. Although unexplained neonatal respiratory distress in infants causes atypical presentations such as chronic cough and otitis media in childhood and infertility in adulthood, the most common clinical triad is chronic upper and lower airway infections, bronchiectasis and situs inversion. The average prevalence of PCD is 1/10,000 to 1/20,000. Approximately 50% of patients with PCD also have a high incidence of congenital heart disease. PCD is difficult to identify and diagnose because structural or functional defects in respiratory tract motile cilia and cilia in other organs caused by gene variants in the PCD pathogenesis lead to a heterogeneous set of clinical manifestations. Case: A 26-year-old male patient with a diagnosis of PCD was admitted to the neurology outpatient clinic with a complaint of headache. The patient was hospitalized after cranial CT and MRI revealed ventricular cerebral abscesses on examination due to nuchal rigidity. After lumbar puncture performed with the recommendation of infectious diseases, the patient was transferred to the intensive care unit upon regression of neurologic examination and external ventricular drainage procedure was performed by neurosurgery. The patient was stabilized and brain abscess drainage was performed. BOS culture was sent and antibiotherapy was organized. Discussion: Dynein is a protein responsible for mucociliary activity. In PCD; bacteria and mucus accumulation occurs in the sinuses due to dynein deficiency. Since this accumulation increases the tendency for infection in the sinuses and bronchi, it may cause local involvement such as empyema, lung abscess or may break off from an infected thrombosed vasculitis and reach distant organs. This can lead to brain abscesses and meningitis, as in our case [ABSTRACT FROM AUTHOR]