Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage.

ABSTRACT:

Background

Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid beta-oxidation. Signs and symptoms of MCADD typically appear during infancy or early childhood and include vomiting, lethargy, and hypoglycemia. Pulmonary haemorrhage has previously been described in patients with MCADD, but has always been considered a pre-terminal complication caused by heart failure.

Case presentation

We report on a newborn term infant that presented on the second day of life with signs of encephalopathy, followed by hypovolemia and respiratory distress caused by a severe pulmonary haemorrhage. Fluid resuscitation and mechanical ventilation were initiated and the coagulopathy was corrected by the administration of fresh frozen plasma. Echo

SUBMITTER: Staels W 

PROVIDER: S-EPMC4823675 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature