Chediak-Higashi syndrome vs Leukocyte adhesion deficiency
How to tell Chediak-Higashi syndrome and Leukocyte adhesion deficiency apart when a board question makes them look alike.
Chediak-Higashi is giant granules and albinism; LAD is no pus, delayed cord separation, and neutrophil adhesion failure.
Side by side
Chediak-Higashi causes partial albinism, neuropathy, recurrent pyogenic infections, giant granules, and impaired lysosomal trafficking.
Leukocyte adhesion deficiency causes delayed umbilical cord separation, recurrent bacterial infections without pus, neutrophilia, and impaired CD18 integrin adhesion.
LYST mutation disrupts lysosomal trafficking, producing giant granules, partial albinism, neuropathy, and recurrent pyogenic infections from impaired phagolysosome function.
LAD-1 is CD18/ITGB2 integrin deficiency, so neutrophils cannot adhere and migrate into tissue despite marked neutrophilia.
Giant granules in leukocytes, partial albinism, neuropathy, and recurrent infections support Chediak-Higashi.
Delayed umbilical cord separation, no pus at infection sites, neutrophilia, and absent CD18 support LAD-1.
The repair move
Before naming the answer, force the stem through the separator: Chediak-Higashi is giant granules and albinism; LAD is no pus, delayed cord separation, and neutrophil adhesion failure.
Try a free question
CoreA 4-year-old boy has partial oculocutaneous albinism, recurrent pyogenic infections, easy bruising, and progressive peripheral neuropathy. Peripheral smear shows giant azurophilic granules in neutrophils, eosinophils, and lymphocytes. Genetic testing reveals LYST mutation. Which condition is most likely?
Show answer and explanation
Answer: A. Chediak-Higashi syndrome. Chediak-Higashi syndrome is autosomal recessive LYST gene mutation impairing lysosomal trafficking and producing giant azurophilic granules in leukocytes, partial albinism (defective melanosome transport), recurrent pyogenic infections, easy bruising (platelet dense granule abnormality), and peripheral neuropathy. Accelerated phase with hemophagocytic lymphohistiocytosis-like crisis can occur.
Why the other choices are tempting
- B. LAD has neutrophilia without pus formation and delayed cord separation, not giant granules with albinism.
- C. CGD has failed oxidative burst and granulomas with catalase-positive organisms, not giant granules or albinism.
- D. Wiskott-Aldrich has thrombocytopenia with small platelets, eczema, and immunodeficiency, not giant granules or albinism.
- E. Oculocutaneous albinism without immune defect is tyrosinase deficiency with isolated pigmentary changes, no recurrent infections or giant granules.
Flashcards
Tap a card to flip it.
What clue supports Chediak-Higashi syndrome?
Choose Chediak-Higashi syndrome when the stem gives this pattern: Chediak-Higashi causes partial albinism, neuropathy, recurrent pyogenic infections, giant granules, and impaired lysosomal trafficking.
What clue supports Leukocyte adhesion deficiency?
Choose Leukocyte adhesion deficiency when the stem gives this contrasting pattern: Leukocyte adhesion deficiency causes delayed umbilical cord separation, recurrent bacterial infections without pus, neutrophilia, and impaired CD18 integrin adhesion.
Quick answers
What is the fastest way to tell Chediak-Higashi syndrome from Leukocyte adhesion deficiency?
Chediak-Higashi is giant granules and albinism; LAD is no pus, delayed cord separation, and neutrophil adhesion failure.
What is the key clue for Chediak-Higashi syndrome?
Chediak-Higashi causes partial albinism, neuropathy, recurrent pyogenic infections, giant granules, and impaired lysosomal trafficking.
What is the key clue for Leukocyte adhesion deficiency?
Leukocyte adhesion deficiency causes delayed umbilical cord separation, recurrent bacterial infections without pus, neutrophilia, and impaired CD18 integrin adhesion.