An Unusual Congenital Anomaly in Fanconi Aplastic Anemia: Congenital Lobar Emphysema

A 7-year-old girl who presented with epistaxis was examined due to pancytopenia. Her medical history revealed that she had respiratory distress in the neonatal period. She was born to a second-degree consanguineous marriage. Physical examination revealed short stature, microcephaly, microphthalmia, and hypo/ hyperpigmented lesions on the trunk and extremities. She did not have tachypnea, but she had decreased breathing sounds in the left lung. A laboratory work-up revealed hemoglobin of 5.4 g/dL, mean corpuscular volume of 103/fL, leukocyte count of 2.7x109/L, and thrombocyte count of 11x109/L. A chromosomal breakage test with diepoxybutane was compatible with Fanconi anemia (FA). Posteroanterior chest X-ray showed hyperinflation of the left lung (Figure 1). Chest computed tomography revealed emphysematous changes in the upper part of the left lung, compatible with congenital lobar emphysema (Figure 2).