چکیده (انگلیسی):

Chediak–Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized
by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic
deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by
pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes.
Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case
of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis
was made on the basis of clinical characteristics, hair analysis, and identification of
pathognomonic giant azurophilic granules in peripheral blood and bone marrow.

2015 King Faisal Specialist Hospital & Research Centre. Published by Elsevier Ltd. This is an
open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/bync-
nd/4.0/).