Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review

J Pediatr. 2018 Nov:202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26.

Abstract

We describe 2 children with cobalamin G disease, a disorder of vitamin B12 metabolism with normal serum B12 levels. They presented with megaloblastic anemia progressing rapidly to severe thrombotic microangiopathy. In infants presenting with acute thrombotic microangiopathy, cobalamin disorders should be considered early as diagnosis and targeted treatment can be lifesaving.

Keywords: Cobalamin G disease; Coblamain C disease; hyperhomocysteinemia; megaloblastic anemia; methionine synthase; thrombotic microangiopathy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anemia, Megaloblastic / blood
  • Anemia, Megaloblastic / complications
  • Anemia, Megaloblastic / diagnosis*
  • Anemia, Megaloblastic / drug therapy*
  • Blood Chemical Analysis
  • Blood Transfusion / methods
  • Child, Preschool
  • Disease Progression*
  • Early Diagnosis
  • Failure to Thrive
  • Hematologic Tests
  • Humans
  • Hydroxocobalamin / therapeutic use*
  • Infant
  • Injections, Intramuscular
  • Male
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Thrombotic Microangiopathies / drug therapy*
  • Thrombotic Microangiopathies / etiology*
  • Treatment Outcome
  • Vitamin B 12 Deficiency / blood
  • Vitamin B 12 Deficiency / diagnosis

Substances

  • Hydroxocobalamin