title: 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.
  
  
  METHODS
  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. Echocardiography revealed a normal cardiac function. After 6 days of full intensive care, the patient survived without sequellae. The clinical presentation in absence of signs of infection raised a strong suspicion for a metabolic disorder and genetic testing revealed MCADD due to a homozygous A985G mutation.
  
  
  CONCLUSIONS
  The key towards successful management of severe pulmonary haemorrhage in newborns with a coagulopathy and suspicion of an underlying metabolic disorder consists of adequate mechanical ventilation and aggressive use of fresh frozen plasma, while treating the metabolic decompensation and initiating an early diagnostic work-up. MCADD can lead to acute decompensation and present with complications such as pulmonary haemorrhage independent of cardiac function. Hence, in the context of MCADD, pulmonary haemorrhage should not be considered a pre-terminal complication caused by heart failure, and rather than withdrawing care, intensive treatment must be initiated.
authors.affiliation: AZ Sint Jan Brugge-Oostende AV, Neonatal Intensive Care Unit, Bruges, Belgium ; Department of Paediatrics and Genetics, Division of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
authors.forename: Willem
authors.initials: W
authors.lastname: Staels
authors.affiliation: AZ Sint Jan Brugge-Oostende AV, Neonatal Intensive Care Unit, Bruges, Belgium.
authors.forename: James
authors.initials: J
authors.lastname: D'Haese
authors.affiliation: Department of Paediatrics, Jan Yperman Hospital, Ypres, Belgium.
authors.forename: Els
authors.initials: E
authors.lastname: Sercu
authors.affiliation: Department of Paediatrics, Division of Paediatric Neurology and Metabolic Diseases, Universtair Ziekenhuis Brussel, Brussels, Belgium.
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.affiliation: Department of Paediatrics, AZ Groeninge, Kortrijk, Belgium.
authors.forename: Johan
authors.initials: J
authors.lastname: Colpaert
authors.affiliation: AZ Sint Jan Brugge-Oostende AV, Neonatal Intensive Care Unit, Bruges, Belgium.
authors.forename: Luc
authors.initials: L
authors.lastname: Cornette
keywords: Medium-chain Acyl-CoA Dehydrogenase Deficiency (#MIM 201450); Pulmonary haemorrhage