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

Willem Staels UGent, James D'Haese, Els Sercu, Linda De Meirleir, Johan Colpaert and Luc Cornette (2015) MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY. 1.
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. 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. Conclusion: 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.
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author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
Medium-chain Acyl-CoA Dehydrogenase Deficiency (#MIM 201450), Pulmonary haemorrhage
journal title
MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY
Maternal Health Neonatol. Perinatol.
volume
1
article number
8
pages
6 pages
ISSN
2054-958X
DOI
10.1186/s40748-015-0010-9
language
English
UGent publication?
yes
classification
A2
copyright statement
I have retained and own the full copyright for this publication
id
6854217
handle
http://hdl.handle.net/1854/LU-6854217
date created
2015-06-30 14:43:46
date last changed
2016-12-21 15:41:36
@article{6854217,
  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. 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.
Conclusion: 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.},
  articleno    = {8},
  author       = {Staels, Willem and D'Haese, James and Sercu, Els and De Meirleir, Linda and Colpaert, Johan and Cornette, Luc},
  issn         = {2054-958X},
  journal      = {MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY},
  keyword      = {Medium-chain Acyl-CoA Dehydrogenase Deficiency (\#MIM 201450),Pulmonary haemorrhage},
  language     = {eng},
  pages        = {6},
  title        = {Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage},
  url          = {http://dx.doi.org/10.1186/s40748-015-0010-9},
  volume       = {1},
  year         = {2015},
}

Chicago
Staels, Willem, James D’Haese, Els Sercu, Linda De Meirleir, Johan Colpaert, and Luc Cornette. 2015. “Medium-chain Acyl-CoA Dehydrogenase Deficiency Presenting with Neonatal Pulmonary Haemorrhage.” Maternal Health Neonatology and Perinatology 1.
APA
Staels, W., D’Haese, J., Sercu, E., De Meirleir, L., Colpaert, J., & Cornette, L. (2015). Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage. MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY, 1.
Vancouver
1.
Staels W, D’Haese J, Sercu E, De Meirleir L, Colpaert J, Cornette L. Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage. MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY. 2015;1.
MLA
Staels, Willem, James D’Haese, Els Sercu, et al. “Medium-chain Acyl-CoA Dehydrogenase Deficiency Presenting with Neonatal Pulmonary Haemorrhage.” MATERNAL HEALTH NEONATOLOGY AND PERINATOLOGY 1 (2015): n. pag. Print.