An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

Acta Paediatr. 2002;91(6):714-6. doi: 10.1080/080352502760069179.

Abstract

This report describes a case of mevalonate kinase deficiency diagnosed at 1 mo of age. Soon after delivery, symptoms were suggestive of congenital infection. An intestinal occlusion occurred towards the age of 8 mo.

Conclusion: Mevalonate kinase deficiency has variable clinical and biological signs which can lead to a delay in diagnosis. This is the first reported occurrence of bowel obstruction in this disease and the resemblance to a congenital infection in the neonatal period must be emphasized.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Disease Progression
  • Fatal Outcome
  • Humans
  • Ileal Diseases / diagnosis
  • Ileal Diseases / etiology*
  • Ileal Diseases / surgery
  • Infant
  • Intestinal Obstruction / diagnosis
  • Intestinal Obstruction / etiology*
  • Intestinal Obstruction / surgery
  • Jejunal Diseases / diagnosis
  • Jejunal Diseases / etiology*
  • Jejunal Diseases / surgery
  • Laparotomy
  • Male
  • Mevalonic Acid / metabolism*
  • Severity of Illness Index

Substances

  • Mevalonic Acid