Chediak –Higashi syndrome presenting in accelerated phase: A case report and literature review

Publication date: June 2016 Source:Hematology/Oncology and Stem Cell Therapy, Volume 9, Issue 2 Author(s): I. Maaloul, J. Talmoudi, I. Chabchoub, L. Ayadi, T.H. Kamoun, T. Boudawara, C.H. Kallel, M. Hachicha 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.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research