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Fatty liver in a two days old neonate
P Arivalagan1, M S Husain2, K Subramaniam3
1Hospital Putrajaya, Forensic Department, Putrajaya, Malaysia. kuna0921@yahoo.com.
The Medical Journal of Malaysia
|October 26, 2019
Summary
Sudden unexpected neonatal death in Malaysia was linked to a rare inborn error of metabolism. Autopsy findings of fatty liver and enlarged heart can suggest this diagnosis in neonates.
Area of Science:
- Biochemistry
- Pediatrics
- Pathology
Background:
- Neonatal death due to inborn errors of metabolism (IEM) is uncommon in Malaysia.
- Sudden unexpected infant death syndrome (SUIDS) remains a concern in neonates.
Observation:
- A previously asymptomatic two-day-old male infant died suddenly hours after hospital discharge.
- The infant was fed expressed breast milk and formula.
- Autopsy revealed significant fatty changes in the liver and cardiac enlargement.
Findings:
- Laboratory investigations confirmed very long chain Acyl-CoA dehydrogenase (VLCAD) deficiency as the cause of death.
- VLCAD deficiency is a rare metabolic disorder affecting fatty acid metabolism.
Implications:
- Autopsies for sudden unexpected neonatal death should include investigations for IEM.
- Fatty liver and enlarged heart observed during autopsy may indicate underlying metabolic disorders like VLCAD deficiency.
- Early diagnosis and management of IEMs can potentially prevent neonatal mortality.
