Chediak-Higashi Syndrome: A Case Presenting in Accelerated Phase

Abstract

Chediak Higashi syndrome (CHS) is an autosomal recessive disorder, caused by biallelic mutations in the highly conserved LYST gene. It is characterized by partial oculocutaneous albinism and immunodeficiency. Approximately 500 cases are reported worldwide. Here we report a case of a twelve years old girl, hospitalized in children’s hospital of Rabat Morocco, who suffered from Chediak higashi syndrome presented in its accelerated phase, the diagnosis was made on the basis of clinical characteristics, hair analysis, and the presence of giant inclusions in peripheral blood smear and in the bone marrow. The only treatment reportedly leading to cure of CHS has been allogeneic hematopoietic stem cell transplantation. Without it, CHS is usually fatal before the age of 10 years because of “accelerated phase” HLH induced by infection. An early diagnosis can improve its prognosis by performing an allogeneic hematopoietic stem cell transplantation before reaching the accelerated phase.