Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency

Fetal Pediatr Pathol. 2014 Aug;33(4):234-8. doi: 10.3109/15513815.2014.915365. Epub 2014 May 19.

Abstract

We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. The diagnosis was made after her death from the TPI values of her parents who exhibited intermediate enzyme deficiency. Molecular study of TPI genes showed that the father and the mother are heterozygous for Glu105Asp mutation. Pediatricians must be alert to the differential diagnosis in patients having hemolytic anemia and other concomitant manifestations.

Keywords: autosomal recessive inheritance; congenital hemolytic anemia; neuromuscular impairment.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Anemia, Hemolytic, Congenital Nonspherocytic / complications*
  • Anemia, Hemolytic, Congenital Nonspherocytic / diagnosis*
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics
  • Carbohydrate Metabolism, Inborn Errors / complications*
  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child, Preschool
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Neuromuscular Diseases / etiology*
  • Parents
  • Triose-Phosphate Isomerase / deficiency*
  • Triose-Phosphate Isomerase / genetics
  • Tunisia

Substances

  • Triose-Phosphate Isomerase

Supplementary concepts

  • Triosephosphate Isomerase Deficiency