A 9-month-old infant with lethargy and hemolytic signs in th
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A previously healthy 9-month-old girl was presented to the emergency service with a 2-day history of jaundice. Physical examination was significant for hypotonia, lethargy, jaundice, Blood results demonstrated macrocytic anemia with haemoglobin count of 63 g/L (MCV 103 fL) platelet count of 22 × 109/L (MPV 7.7 fL), elevated lactate dehydrogenase (12440 U/L), total serum bilirubin of 1.88 mg/dL and a reticulocyte count in the lower limit of normal (23.30 × 109/L).

Many schistocytes, basophilic stippling, tear drop cells and cabot rings were reported on the peripheral blood smear. The infant was born with benign hydrocephalus, which was followed by paediatricians monthly. On day 2 of her admission, B12 level resulted as < 50 pg/mL, (normal range in infants: 200–1100 pg/mL) with an elevated folate level. Total plasma homocysteine levels were significantly elevated.

Investigating her family history, it turned out that the patient's mother followed a strictly vegan diet (just plant-derived foods, without milk or eggs). At the moment of infant hospital admission, the level of B12 vitamin in patient's mother was deficient (130 pg/mL).

The infant received treatment with intramuscular injections of hydroxocobalamin with rapid resolution of hypotonia followed by improvement of bicytopenia (anemia recovered after 20 days under treatment and platelets after 5 days) and haemolysis. She had been following exclusively breast feeding until admission. Later, blended preparations were introduced (thin creams and paps).

Although nutritional deficiencies in infancy is rare, this entity should be at the forefront of the differential diagnosis for infants mimicking thrombotic microangiopathic haemolytic anaemia. This finding focuses attention to the importance of maternal screening B12 vitamin measure, particularly in mothers who follows diets low in animal products or dairy. This measure may be an effective way to minimize infant morbidity.

source: https://www.pediatr-neonatol.com/article/S1875-9572(20)30112-1/fulltext?rss=yes