A boy aged 6 years and 3 months developed
upper respiratory tract infection and
pyrexia 2 months ago and was given
oral administration of
nimesulide by his parents according to directions. Half an hour later, the boy experienced convulsions and
cardiopulmonary arrest, and emergency examination found hypoketotic
hypoglycemia,
metabolic acidosis, significant increases in serum
aminotransferases and
creatine kinase, and renal damage. Recovery of consciousness and vital signs was achieved after
cardiopulmonary resuscitation, but severe mental and movement regression was observed. The boy had a significant reduction in free
carnitine in blood and significant increases in medium- and long-chain fatty acyl
carnitine, urinary
glutaric acid, 3-hydroxy
glutaric acid, isovalerylglycine, and
ethylmalonic acid, suggesting the possibility of
multiple acyl-CoA dehydrogenase deficiency. After the treatment with
vitamin B2,
L-carnitine, and
bezafibrate, the boy gradually improved, and reexamination after 3 months showed normal biochemical parameters. The boy had compound heterozygous mutations in the ETFDH gene, i.e., a known mutation, c.341G>A (p.R114H), from his mother and a novel mutation, c.1484C>G (p.P495R), from his father. Finally, he was diagnosed with
multiple acyl-CoA dehydrogenase deficiency.
Reye syndrome and
sudden death symptoms were caused by
nimesulide-induced acute metabolic crisis. It is concluded that inherited
metabolic diseases may be main causes of
Reye syndrome and
sudden death, and biochemical and genetic analyses are the key to identifying underlying diseases.