Question

A four-year-old boy is in the clinic for evaluation of jaundice. He had a runny nose and a fever three days ago, and last night, the parents noticed he had decreased appetite and yellowing of the eyes. He has a history of requiring phototherapy during his neonatal period. The boy and his mother both have O positive blood type. On physical exam, the boy appears ill with icteric sclerae and splenomegaly. Laboratory testing shows anemia, reticulocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), elevated indirect bilirubin, negative Coombs test as well as numerous spherocytes found on peripheral blood smear. Which of the following is the most likely diagnosis?

A) Autoimmune hemolytic anemia
B) Glucose-6-phosphate dehydrogenase deficiency
C) Hereditary spherocytosis
D) Neonatal alloimmune hemolytic anemia

Answer 1

The most likely diagnosis for the four-year-old boy with jaundice, a history of phototherapy, anemia, reticulocytosis, elevated MCHC, elevated indirect bilirubin, a negative Coombs test, and spherocytes on blood smear is Hereditary spherocytosis. C) Hereditary spherocytosis

Step-by-step explanation:

A four-year-old boy is in the clinic for evaluation of jaundice, showing symptoms such as a decreased appetite and yellowing of the eyes, along with a history of requiring phototherapy during his neonatal period. Laboratory testing reveals anemia, reticulocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), elevated indirect bilirubin, a negative Coombs test, and the presence of numerous spherocytes on a peripheral blood smear. Given these findings, particularly the negative Coombs test and the presence of spherocytes, the most likely diagnosis for the boy is Hereditary spherocytosis (C).

Hereditary spherocytosis is a condition characterized by the presence of spherocytes in the blood and hemolytic anemia, which can sometimes present with jaundice. The negative Coombs test helps to rule out immune causes such as autoimmune hemolytic anemia and neonatal alloimmune hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency is less likely because it typically presents with episodic hemolysis triggered by oxidative stress and is not associated with spherocytosis on blood smear. Hereditary spherocytosis is a genetic disorder characterized by a defect in the red blood cell membrane, leading to the formation of spherocytes. This can result in hemolysis, anemia, and jaundice. The condition may become apparent after a viral infection, as in this case. The negative Coombs test distinguishes hereditary spherocytosis from autoimmune hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency is not typically associated with spherocytes, and neonatal alloimmune hemolytic anemia usually presents earlier in life.