Physiological pulmonary assessments in the management of bilateral diaphragmatic eventration

Abstract Objectives To describe the importance of comprehensive assessment to determine the underlying diagnosis and the role of physiological pulmonary measurements in the management of congenital bilateral eventration of the diaphragm. Case presentation A female infant born at 34 weeks gestation required intubation and ventilation at birth. Chest radiographical imaging revealed bilateral density to the bases of both lung fields with raised hemi-diaphragms. Ultrasound imaging showed focal diaphragmatic eventration with bulging of the dome of the liver into the right and left hemithoraces. Assessment of the electrical activity of the diaphragm during a spontaneous breathing trial demonstrated a mean amplitude consistent with that of ventilated infants of the same gestational age with intact diaphragms. Hence she was extubated which was successful. Chest radiographic thoracic area measured post extubation was 1,654 mm2, equivalent to that of a term infant with severe congenital diaphragmatic hernia. As the electrical activity of the diaphragm was normal this suggests replacement of the diaphragmatic muscle tissue with fibrous bands was likely to be only partial, and hence why extubation was successful. She had other abnormalities presenting in the neonatal period including dermal melancytosis, central hypotonia, hyperinsulinism and poor feeding. The infant underwent extensive investigation which revealed a KMT2D gene mutation associated with Kabuki syndrome. Conclusions Physiological pulmonary measurements may add clinical management in bilateratal diaphragmatic eventration.