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Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency

Carolina Fraga1, Ana Losa2, Inês Cascais2

  • 1Department of Pediatrics, Centro Materno-Infantil de Norte, Centro Hospitalar Universitário de Santo António (CMIN, CHUdSA).

Journal of Pediatric Hematology/Oncology
|February 26, 2024
PubMed

Insights

Severe hemolytic anemia is rarely caused by cobalamin deficiency in children. This study details two pediatric cases, one in an infant with maternal absorption issues and another in an adolescent with poor diet.

Area of Science:

  • Pediatric Hematology
  • Nutritional Deficiencies
  • Neurology

Background:

  • Cobalamin (vitamin B12) deficiency can cause severe health issues.
  • Hemolytic anemia is an uncommon manifestation of cobalamin deficiency.

Observation:

  • Case 1: An exclusively breastfed infant presented with severe cobalamin deficiency due to maternal malabsorption, developing neurological deficits and infantile epileptic spasms syndrome post-treatment.
  • Case 2: An adolescent with a history of inadequate dietary intake developed severe cobalamin deficiency.

Findings:

  • Both pediatric cases exhibited severe hemolytic anemia linked to distinct causes of cobalamin deficiency.
  • Neurological sequelae, including infantile epileptic spasms syndrome, can occur even after treatment and normalization of cobalamin levels.

Implications:

  • Highlights the critical need for early diagnosis and management of cobalamin deficiency in pediatric populations.
  • Underscores the potential for rare but severe hematological and neurological complications in pediatric cobalamin deficiency.
  • Emphasizes the importance of maternal nutritional status assessment in exclusively breastfed infants.

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