Congenital lobar emphysema in monozygotic twins

Respir Med Case Rep. 2023 Mar 22:43:101842. doi: 10.1016/j.rmcr.2023.101842. eCollection 2023.

Abstract

Congenital lobar emphysema (CLE) is caused by airway defects resulting in air trapping and hyperinflation of the affected lobe. Case reports of families affected with CLE imply a genetic etiology. However, the genetic contributions have not been well-described. We present a case of CLE in a monozygotic twin brother with respiratory distress diagnosed with right upper lobe (RUL) CLE and treated with a lobectomy. His asymptomatic twin brother was screened prophylactically, found to have RUL CLE and subsequently underwent a lobectomy. Our report provides further evidence supporting the genetic predisposition and potential benefit of early screening for CLE in comparable scenarios.

Keywords: Congenital lobar emphysema; Genetic disorders; Hyperinflation; Lobectomy; Respiratory distress.

Publication types

  • Case Reports