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

Observation: We report on the case of a 3-year-old child from La Réunion island, who presented with hypoglycemic hypoketotic coma secondary to a primary Epstein-Barr virus (EBV) infection. The discovery of the G1528C homozygote mutation provided the diagnosis of long-chain-3-hydroxyacyl-CoA-dehydrogenase (LCHAD); an adapted dietary plan with prevention of fasting and L-carnitine supplementation was initiated. After 2 years, a pigmentary retinopathy appeared and muscle weakness increased.

Comments: Isolated LCHAD deficiency is an autosomal recessive disorder of fatty acid metabolism. Prevalence is about 1-9/100,000 and diagnosis is often made before the age of 2 years. The late age of revelation in our case is related to a spontaneous diet without animal fats (disgust for meat, diet based on white rice and skimmed milk) and nighttime breastfeeding until the age of 3 years. In an affected fetus, heterozygous mothers are susceptible to developing a hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome or an acute fatty liver pregnancy (AFLP) syndrome during the 3rd trimester of pregnancy, which motivated us to set up a systematic neonatal screening program and a specific monitoring of these newborns.