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Adult presentation of symptomatic left lung agenesis

Omer Kaya1, Bozkurt Gulek1, Cengiz Yilmaz1

  • 1Department of Radiology, Adana Numune Teaching and Research Hospital, Ege Bagatur Boulevard, 01240, Yuregir, Adana, Turkey.

Radiology Case Reports
|February 24, 2017
PubMed

Insights

Pulmonary agenesis, a rare congenital anomaly, affects approximately 1 in 100,000 births. This case highlights its diagnosis in adulthood, often due to the absence of associated anomalies.

Area of Science:

  • Medical Genetics
  • Pediatric Pulmonology
  • Congenital Anomalies

Background:

  • Pulmonary agenesis is a rare congenital anomaly with an incidence of approximately 1 in 100,000 births.
  • It frequently co-occurs with other system anomalies, present in nearly half of affected individuals.
  • Diagnosis is typically established in childhood, but can be delayed into adulthood.

Observation:

  • This report details a case of pulmonary agenesis.
  • The diagnosis was made in adulthood.
  • The patient presented without significant comorbid anomalies, contributing to the delayed diagnosis.

Findings:

  • Pulmonary agenesis can remain undiagnosed until adulthood, particularly when isolated.
  • The absence of associated congenital anomalies can mask the condition.
  • Late diagnosis necessitates tailored clinical management and follow-up.

Implications:

  • Highlights the importance of considering pulmonary agenesis in adults with unexplained respiratory symptoms.
  • Emphasizes the need for advanced imaging and diagnostic approaches in suspected cases.
  • Informs clinical practice regarding the spectrum of presentation and diagnostic challenges of pulmonary agenesis.

Keywords:
AgenesisLung

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