KEY CLINICAL MESSAGE A preterm infant at the age of 9 months with severe bronchopulmonary dysplasia (BPD) and large lobar emphysema, compromising ventilation into adjacent lobes with respiratory failure under maximal conservative treatment and pulmonary arterial hypertension recovered initially well after bilateral lung volume reduction surgery, but progressed 2 years later into respiratory fai...

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 sh...