Case 2: You look like you've seen a goat

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A five-month-old, white female presented to the hospital with a three-week history of pallor and lethargy. The infant was born at term with a birth weight of 3.15 kg. She was bottlefed every 2 h to 4 h on demand with a normal stool and urine pattern. Her 26-year-old mother consumed a vegan diet. The infant was not taking any medications and all immunizations had been declined. On examination, she was pale and lethargic; vital signs included a temperature of 37.8°C, a pulse of 145 beats/min, a blood pressure of 80 mmHg and a respiratory rate of 35 breaths/min. Her weight was 6.37 kg (in the 25th percentile for age). A grade 2/6 systolic ejection murmur was detected at the left sternal border in addition to a palpable spleen. The remainder of her physical examination was normal. On investigation, her hemoglobin level was 30 g/L (normal 100 g/L to 140 g/L), with a mean corpuscular volume (MCV) of 94.3 fL (normal 73 fL to 85 fL) and an absolute reticulocyte count of 41.3×109/L (normal 5×109/L to 250×109/L). Her platelet count was 57×109/L (normal 150×109/L to 400×109/L) and white blood cell count was 5.7×109/L (normal 5×109/L to 15×109/L), with 1.83×109/L of neutrophils. Her blood smear showed hypersegmented neutrophils. Electrolytes, renal function tests and liver enzymes were normal. Her chest x-ray showed mild cardiomegaly and abdominal ultrasound showed mild splenomegaly (6.6 cm). Bone marrow aspirate revealed increased erythropoiesis, and bone marrow biopsy reported hypercellular marrow and megaloblastic changes with no evidence of leukemia. Further history and laboratory tests revealed the etiology of her anemia.