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Severe megaloblastic anaemia in an infant
Vera Rodrigues1, Alexandra Dias, Maria João Brito
1Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Lisboa, Portugal. veralarodrigues@gmail.com
BMJ Case Reports
|June 15, 2012
Summary
Severe vitamin B12 deficiency in an exclusively breastfed infant led to anemia and failure to thrive. Maternal pernicious anemia was identified as the cause, highlighting the need for early detection and intervention.
Area of Science:
- Pediatrics
- Hematology
- Nutritional Science
Background:
- Vitamin B12 (cobalamin) deficiency is rare in children, typically seen in exclusively breastfed infants of mothers with specific dietary restrictions or pernicious anemia.
- Early identification and intervention are crucial to prevent severe health consequences.
Observation:
- A 10-month-old infant presented with vomiting, poor appetite, prostration, and failure to thrive since 5 months of age.
- The infant was exclusively breastfed, with reported difficulties in introducing new foods.
- Laboratory results indicated severe normocytic normochromic anemia and cobalamin deficiency.
Findings:
- The infant was diagnosed with severe Vitamin B12 deficiency and alpha-thalassemia trait.
- Maternal investigation revealed autoimmune pernicious anemia, the likely source of the infant's deficiency.
Implications:
- This case underscores the critical importance of recognizing and managing Vitamin B12 deficiency in exclusively breastfed infants.
- Prompt diagnosis and supplementation can prevent potentially irreversible neurological damage.
- Maternal health screening for conditions like pernicious anemia is vital for infant well-being.
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