[Imerslund-Gräsbeck syndrome]

Arch Pediatr. 2009 Dec;16(12):1559-61. doi: 10.1016/j.arcped.2009.09.010. Epub 2009 Oct 23.
[Article in French]

Abstract

Anemia is a very common symptom encountered in numerous clinical situations in pediatrics. Etiologies range from classic iron-deficiency anemia to the more particular etiologies. We report on a clinical history where usual symptoms such as asthenia, drowsiness and proteinuria provided a rare diagnosis: Imerslund-Gräsbeck syndrome. We discuss the exams to be done with aregenerative macrocytic anemia so as not to underestimate these diagnoses, which each require adapted treatments.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Anemia, Megaloblastic / drug therapy
  • Anemia, Megaloblastic / genetics*
  • Asthenia / genetics
  • Child, Preschool
  • Consanguinity
  • Failure to Thrive / genetics
  • Female
  • Humans
  • Proteinuria / genetics
  • Rare Diseases
  • Sleep Stages / genetics
  • Syndrome
  • Treatment Outcome
  • Vitamin B 12 Deficiency / genetics