నైరూప్య

A case of vitamin B12 deficiency in an exclusively breastfed child.

Wiem Barbaria*, Hanène Landolsi, Antonio Guerrioui, Ichrak Khamassi

Vitamin B12 deficiency in infants is a serious concern due to its role in neurological development and hematopoiesis. This deficiency often arises from inadequate intake, necessitating early diagnosis to prevent enduring neurological consequences.

We present the case of a 14-month-old girl exclusively breastfed until her presentation with symptoms of asthenia and psychomotor regression. Clinical examination revealed macrocephaly, peripheral hypotonia, and abolished reflexes. Laboratory tests identified macrocytic anemia, neutropenia, and elevated homocysteine levels. Vitamin B12 levels were significantly low. Investigations on the mother showed no anaemia and a vitamin B12-level at the lower range of normal. The child received intramuscular vitamin B12 and well-diversified diet. The evolution was favourable with normal examination at the age of 18 months old.

This case underscores the importance of considering vitamin B12 deficiency in breastfed infants with neurological and hematological abnormalities, even when maternal vitamin B12 levels appear normal. Long-term neurological outcomes remain uncertain, emphasizing the need for vigilance in diagnosis and management.