Chediak-Higashi syndrome


Rare autosomal recessive disorder with defect in granule formation in many tissues causing recurrent bacterial and fungal infections.

Associated with a mild bleeding tendency and partial oculo-cutaneous albinism.

Chediak-Higashi syndrome-giant granules in peripheral blood granulocytes and eosinophilic inclusions in lymphocytes.

Patients have fair skin color and silver hair.

Patients frequently have peripheral neuropathy, ataxia and nystagmus.

Neutrophils have giant inclusions that are myeloperoxidase stain positive.

Bleeding time prolonged secondary to deficiency of dense granules with normal platelet counts.

Mild to moderate neutropenia is present.

Chediak-Higashi syndrome-treatment is high dose ascorbic acid.

Debilitating neuropathies occur in the second decade of life.

May progress to a lymphoma-like illness manifested by hepato-splenomegaly, pancytopenia, fevers, lymphohistiocytic proliferation and infiltration and recurrent viral and bacterial infections which lead the death.

In the accelerated phase of the disease allogeneic stem cell transplant can be curative.

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