Case of isolated thrombocytopenia due to cobalamin deficiency

Area of Science:

• Pediatrics
• Hematology
• Nutritional Science

Background:

• Idiopathic thrombocytopenic purpura (ITP) is the most frequent cause of isolated thrombocytopenia in children.
• ITP diagnosis is considered in pediatric patients presenting with petechiae, purpura, and ecchymosis.
• Cobalamin deficiency is a known cause of thrombocytopenia, anemia, and leukopenia in children.

Observation:

• A 7-year-old female presented with isolated thrombocytopenia.
• The patient's condition was characterized by low platelet count without other blood cell abnormalities.
• Skin findings like petechiae and purpura were noted, prompting initial consideration of ITP.

Findings:

• Isolated thrombocytopenia due to cobalamin deficiency is rare in pediatric cases.
• The patient's thrombocytopenia significantly improved following cyanocobalamin therapy.
• This suggests cobalamin deficiency as a potential, albeit uncommon, cause of isolated thrombocytopenia in children.

Implications:

• Highlights the importance of considering nutritional deficiencies, specifically cobalamin deficiency, in the differential diagnosis of pediatric isolated thrombocytopenia.
• Cyanocobalamin therapy can be an effective treatment for isolated thrombocytopenia caused by cobalamin deficiency.
• Broadens the understanding of causes for isolated thrombocytopenia in pediatric patients, moving beyond ITP.