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

Dolores Mullikin; Nishitha Pillai; Rossana Sanchez; Anne H O'Donnell-Luria; Amy Kritzer; Leyat Tal; Mohammed Almannai; Gerard T Berry; Michael J Gambello; Hong Li; Brett Graham; Lakshmi Srivaths; Vernon Reid Sutton; Amanda Grimes

doi:10.1016/j.jpeds.2018.06.054

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.

Authors

Affiliations

¹ Baylor College of Medicine, Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Hospital, Houston, TX. Electronic address: dxmullik@texaschildrens.org.
² Baylor College of Medicine, Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX.
³ Department of Human Genetics, Emory University, Atlanta, GA.
⁴ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
⁵ Baylor College of Medicine, Department of Pediatrics, Section of Nephrology, Texas Children's Hospital, Houston, TX.
⁶ Baylor College of Medicine, Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Hospital, Houston, TX.

PMID: 30057141
DOI: 10.1016/j.jpeds.2018.06.054

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