A 2-year-old boy is brought to the physician by his mother for evaluation of recurrent infections and easy bruising. He has been hospitalized 3 times for severe skin and respiratory infections, which responded to treatment with antibiotics. Examination shows sparse silvery hair. The skin is hypopigmented and there are diffuse petechiae. Laboratory studies show a hemoglobin concentration of 8 g/dL, leukocyte count of 3000/mm3, and platelet count of 45,000/mm3. Peripheral blood smear is shown in the image below: This patient most likely has which of the following disorders?

Question

A 2-year-old boy is brought to the physician by his mother for evaluation of recurrent infections and easy bruising. He has been hospitalized 3 times for severe skin and respiratory infections, which responded to treatment with antibiotics. Examination shows sparse silvery hair. The skin is hypopigmented and there are diffuse petechiae. Laboratory studies show a hemoglobin concentration of 8 g/dL, leukocyte count of 3000/mm3, and platelet count of 45,000/mm3. Peripheral blood smear is shown in the image below:  This patient most likely has which of the following disorders?

Quizplus · Accepted Answer

Eductional Objective: Chédiak-Higashi syndrome is an autosomal recessive disorder affecting lysosomal trafficking that results in immunodeficiency, albinism, neurologic abnormalities (eg, nystagmus).  Giant granules are seen within neutrophils.

A 2-Year-Old Boy Is Brought to the Physician by His