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A Rare Cause of Pancytopenia in an Exclusively Breastfed Infant

Aisha A Bobb-Semple1, Ching-See Lau1, Julie Teruya-Feldstein2

  • 1Departments of Pediatrics.

Journal of Pediatric Hematology/Oncology
|July 21, 2018
PubMed

Insights

Infant vitamin B12 deficiency can cause severe, nonspecific symptoms like pancytopenia. Early B12 supplementation rapidly resolves these critical issues in infants.

Area of Science:

  • Pediatrics
  • Hematology
  • Nutritional Science

Background:

  • Vitamin B12 (B12) deficiency in infants often presents with subtle, nonspecific symptoms, potentially delaying diagnosis.
  • Maternal B12 deficiency, even if asymptomatic, can lead to severe consequences in exclusively breastfed infants.

Observation:

  • A 5-month-old infant presented with emesis, lethargy, pancytopenia, hemolysis, hypofibrinogenemia, and elevated LDH.
  • Bone marrow examination revealed hypercellularity with dyserythropoiesis, and serum B12 levels were undetectable.

Findings:

  • The infant's symptoms, including lethargy and pancytopenia, resolved rapidly following intramuscular vitamin B12 administration.
  • The infant's mother was asymptomatic but had undetectable B12 levels and positive intrinsic factor antibodies, indicating pernicious anemia masked by folate supplementation.

Implications:

  • This case highlights the critical importance of considering vitamin B12 deficiency in infants presenting with nonspecific hematological abnormalities.
  • Early diagnosis and treatment of B12 deficiency are crucial for rapid and complete recovery in affected infants.
  • Maternal nutritional status, particularly B12 levels, should be assessed in cases of infant deficiency, even if the mother appears healthy.

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