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[EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy]

A Desbrée1, L Houdon, G Touati

  • 1Service de pédiatrie, CHU de Saint-Etienne, hôpital Nord, avenue Albert-Raimond, 42055 Saint-Etienne cedex 2, France. aureliedesbree@hotmail.com

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|November 2, 2010
PubMed

Insights

Long-chain-3-hydroxyacyl-CoA-dehydrogenase (LCHAD) deficiency, a fatty acid metabolism disorder, can present late due to specific diets. Neonatal screening is crucial for affected newborns and at-risk pregnancies.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Long-chain-3-hydroxyacyl-CoA-dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder impacting fatty acid metabolism.
  • Typically diagnosed before age two, LCHAD deficiency affects approximately 1-9 per 100,000 individuals.

Observation:

  • A 3-year-old child presented with hypoglycemic hypoketotic coma following Epstein-Barr virus (EBV) infection.
  • Genetic analysis revealed a G1528C homozygote mutation, confirming LCHAD deficiency.
  • The patient developed pigmentary retinopathy and increased muscle weakness after two years despite dietary management and L-carnitine supplementation.

Findings:

  • Late presentation of LCHAD deficiency in this case was linked to a diet low in animal fats and prolonged breastfeeding.
  • Heterozygous mothers carrying an affected fetus are at risk for HELLP or AFLP syndromes during the third trimester of pregnancy.

Implications:

  • This case highlights the importance of considering dietary factors in the presentation of metabolic disorders.
  • The findings support the implementation of systematic neonatal screening for LCHAD deficiency.
  • Specific monitoring protocols for newborns diagnosed with LCHAD deficiency and at-risk pregnancies are recommended to prevent severe maternal and fetal complications.
Abstract

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