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[Severe pancytopenia in an infant secondary to vitamin B12 deficiency]
Maria Laura Piasrellini1, Natalia Millán1, Matías Miranday1
1Hospital Pediátrico San Luis.
Insights
Severe vitamin B12 deficiency in infants can cause significant health issues. Early diagnosis and vitamin B12 treatment are crucial for preventing severe hematological complications.
Area of Science:
- Pediatrics
- Hematology
- Nutritional Science
Background:
- Severe vitamin B12 deficiency poses diagnostic challenges due to diverse clinical presentations.
- Infants may exhibit symptoms like fatigue, poor appetite, paleness, and developmental delays.
Purpose of the Study:
- To illustrate the unique characteristics of severe vitamin B12 deficiency in an infant.
- To highlight key diagnostic differentiators for this condition.
Main Methods:
- Case report of a 17-month-old infant with severe vitamin B12 deficiency.
- Analysis of clinical manifestations, laboratory findings (reticulocyte count, LDH), and hematological parameters.
Main Results:
- The infant presented with asthenia, hyporexia, paleness, and regression of maturational patterns.
- Key indicators included decreased reticulocyte counts and elevated lactate dehydrogenase, suggesting suppressed erythropoiesis.
- Advanced cobalamin deficiency affects all cell lines, leading to pancytopenia.
Conclusions:
- Prompt recognition and treatment with vitamin B12 replacement are essential.
- This prevents serious hematological complications associated with severe vitamin B12 deficiency.
Introduction:
Introduction: severe vitamin B12 deficiency presents a diagnostic challenge due to its various clinical manifestations. Case report: the case we present here, a 17-month-old infant who presented with asthenia, hyporexia, paleness and regression of maturational patterns of approximately 2 months of evolution, illustrates the unique characteristics of severe vitamin B12 deficiency, highlighting the key differentiators from other conditions, including decreased reticulocyte counts and elevated lactate dehydrogenase levels, indicative of suppressed erythropoiesis. Discussion: advanced cobalamin deficiency affects all cell lines and produces peripheral pancytopenia. Proposed mechanisms include fragile red blood cells prone to tearing, leading to schistocyte formation, and oxidative stress that exacerbates hemolysis. In conclusion, prompt recognition and treatment with vitamin B12 replacement is essential to prevent serious hematological complications.
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