Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy.

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle disorder which-in severe form-results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction with hyperammonemic crisis caused by OTC deficiency which was managed with veno-arterial extracorporeal membrane oxygenation support combined with continuous renal replacement therapy. Aggressive treatment led to normalization of ammonia and full left ventricular recovery.

Extracorporeal membrane oxygenation as a bridge to diagnosis in a 20-month old girl with pulmonary hypertension and right ventricular failure.

A 20-month old girl with severe pulmonary hypertension and cardiomegaly was admitted to the paediatric intensive care unit with right ventricular failure of unknown origin. Only after decompression of the heart chambers under extracorporeal membrane oxygenation (ECMO), did the pathognomonic membrane of Cor triatriatum become visible on echocardiography. The patient underwent successful surgical correction and subsequently cardiac function recovered completely. Cor triatriatum remains a rare congenital cardiac disorder with a variable presentation, often including recurrent respiratory infections before right-sided heart failure occurs. This case illustrates that ECMO can serve not only as a bridge to diagnosis, but can also facilitate correct diagnosis. Given the excellent outcome after surgical treatment, it is crucial that cardiologists rule out the possibility of cor triatriatum when assessing a child with unexplained pulmonary hypertension.