Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet

Area of Science:

• Pediatrics
• Nutrition Science
• Neurology

Background:

• Vitamin B12 (cobalamin, Cbl) is vital for DNA synthesis and neurological function.
• Infant Cbl deficiency can cause severe, irreversible developmental and neurological issues if untreated.
• Maternal dietary restrictions can lead to low Cbl levels in breast milk, affecting the infant.

Purpose of the Study:

• To present a case of severe vitamin B12 deficiency in an infant due to maternal dietary factors.
• To highlight the clinical presentation and diagnostic challenges of infant Cbl deficiency.
• To emphasize the importance of early diagnosis and intervention for optimal outcomes.

Main Methods:

• Case report of a 16-month-old infant presenting with fever, somnolence, hypotonia, developmental delay, and pancytopenia.
• Laboratory investigations including Cbl levels, hyperhomocysteinemia, and methylmalonic acid.
• Exclusion of congenital and malabsorptive causes of deficiency.
• Treatment with intramuscular Cbl therapy and nutritional support.

Main Results:

• Confirmed severe vitamin B12 deficiency with characteristic biochemical markers.
• Infant experienced rapid hematological and neurological improvement following Cbl supplementation.
• Cow's milk protein allergy necessitated adapted nutritional support.

Conclusions:

• Maternal dietary habits significantly impact infant vitamin B12 status.
• Early detection and prompt Cbl supplementation are critical for reversing hematological and neurological deficits in infants.
• Screening and supplementation strategies for at-risk mothers and infants are essential for preventing long-term developmental consequences.