Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder that is primarily diagnosed in children and is most often fatal. CHS is characterized by recurrent bacterial infections, neutropenia, mild coagulation defects, oculocutaneous albinism, and progressive neurologic dysfunction.

CHS is characterized by an initial phase (called the first phase) and a subsequent accelerated phase. The first phase of CHS occurs shortly after birth or within the first few years of life. Children are diagnosed at this phase based on a history of recurrent pyogenic infections and the presence of varying degrees of alteration in hair, skin, and/or eye pigment. Infections most often involve the respiratory system, skin, and oral mucous membranes; children often present with gingivitis, oral ulcers, lymphadenopathy, and hepatomegaly, and may have bruising due to a mild coagulation defect that is characteristic of CHS. In about 90% of cases, CHS progresses to the accelerated phase with increasingly severe immunodeficiency and lymphocytic infiltration of the body organs. The accelerated phase, which frequently leads to death from organ failure in children with CHS, is precipitated by a viral infection that is most often identified as the Epstein-Barr virus. Patients who survive the accelerated phase of CHS often subsequently die as a result of infections and progressive neurodegeneration, including weakness, sensory deficits, ataxia, cranial nerve palsies, intellectual decline, and/or seizures.

Diagnosis of CHS is made based on clinical presentation and serum blood tests that show neutropenia and the presence of giant cytoplasmic granules in leukocytes. Genetic testing for CHS is not currently available. Treatment for CHS includes prophylaxis with antibiotics to control recurrent infections, although antibiotics do not prevent other manifestations of the disease (e.g., defects in platelet structure and function, photophobia, progressive central and peripheral neuropathy). Other treatments that have been used during the accelerated phase include steroids, antivirals (e.g., acyclovir), chemotherapy (e.g., methotrexate, etoposide), and splenectomy; these treatments have been shown to cause remission but relapse occurs frequently and patients become more resistant to treatment. Bone marrow transplantation is the only successful treatment for the hematologic and immunologic manifestations of CHS but does not prevent neurologic symptom progression, for which there is no known treatment. Patient and family education on reducing risk for infection is crucial, as is continued medical surveillance and providing emotional support to the patient and family.

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