An infant with Imersland-Gräsbeck syndrome

Saudi J Kidney Dis Transpl. 2012 May;23(3):569-71.

Abstract

The Imersland-Gräsbeck Syndrome (IGS) is a rare inherited disorder characterized by megaloblastic anemia due to a selective Vitamin B₁₂ malabsorption in association with mild proteinuria. This syndrome can be diagnosed and treated easily. Herein, we describe an infant with IGS as a rare etiology of growth retardation with diarrhea, vomiting and therapy-resistant proteinuria.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Megaloblastic
  • Diarrhea, Infantile / etiology
  • Growth Disorders / etiology
  • Humans
  • Infant
  • Malabsorption Syndromes / complications*
  • Malabsorption Syndromes / diagnosis
  • Malabsorption Syndromes / genetics
  • Malabsorption Syndromes / therapy
  • Male
  • Proteinuria / complications*
  • Proteinuria / diagnosis
  • Proteinuria / etiology
  • Proteinuria / genetics
  • Proteinuria / therapy
  • Recurrence
  • Respiratory Tract Infections / etiology
  • Treatment Outcome
  • Vitamin B 12 / therapeutic use
  • Vitamin B 12 Deficiency / complications*
  • Vitamin B 12 Deficiency / diagnosis
  • Vitamin B 12 Deficiency / genetics
  • Vitamin B 12 Deficiency / therapy
  • Vitamin B Complex / therapeutic use
  • Vomiting / etiology

Substances

  • Vitamin B Complex
  • Vitamin B 12

Supplementary concepts

  • Imerslund-Grasbeck syndrome