🏥 USMLE Exam Prep

A 4-year-old child presents with recurrent infections, particularly bacterial and fungal, and oculocutaneous albinism. Microscopic examination of neutrophils reveals giant lysosomes. Which of the following is the most likely diagnosis?

A Wiskott-Aldrich Syndrome
B X-linked Agammaglobulinemia
C Chediak-Higashi Syndrome
D Severe Combined Immunodeficiency

✓ Correct Answer: Option C

Chediak-Higashi syndrome is an autosomal recessive disorder characterized by impaired lysosomal trafficking, leading to giant lysosomes in phagocytes. This causes recurrent pyogenic infections, partial albinism, and neurological symptoms.

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