This syndrome is characterized by:
1. Autosomal recessive syndrome with repeated pyogenic infections; mean age at death, 6 years
2. Photophobia, pale optic fundi, nystagmus, partial oculocutaneous albinism, and excessive sweating
3. Hepatosplenomegaly, generalized lymphadenopathy
4. Hematologic features:
a. Anemia, neutropenia, and thrombocytopenia.
b. Giant refractile peroxidase-positive granules (1-4 |im) are present in the neutrophils, eosinophils, basophils, and platelets. They stain greenish gray.
c. Granules fail to discharge lysosomal enzymes into the phagocytic vacuole, leading to increased susceptibility to infection.
d. A defect in chemotaxis and neutropenia contributes further to lower bacterial resistance.
e. Platelets are deficient in dense bodies and may contain the giant granules.
5. An accelerated phase occurs in 85% of cases. It is characterized by infiltration of the central nervous system and peripheral nerves, liver, spleen, and other organs by histiocytes and atypical lymphocytes. A lymphoma-like picture with fever, jaundice, hepatosplenomegaly, lymphadenopathy, bleeding tendency, and pancytopenia develops.
1. Ascorbic acid (20 mg/kg/day) may normalize the chemotactic defect and bactericidal function.
2. Antibiotics. Prophylactic antibiotics include trimethoprim/sulfamethoxazole. Therapeutic use of antibiotics is recommended to treat infections.
3. Vincristine and corticosteroids may induce temporary remissions when used in accelerated phase.
4. Allogeneic HSCT is potentially curative.
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