Chediak higashi syndrome: Report of a case with an accelerated phase and review of literature

ABSTRACT

Chediak-Higashi syndrome [CHS] is a rare autosomal recessive disorder characterized by partial albinism, recurrent pyogenic infection and large granules in all granule-containing cells. We present a case of 1 1/2 year- old non Kuwaiti boy who presented in the accelerated phase of CHS with fever, pancytopenia, lymphadenopathy and hepatosplenomegaly. High dose of methylprednisolone and sandglobulin were given for treatment of the accelerated phase with clinical response to the therapy. Unfortunately, allogenic bone marrow transplantation for HLA-matched father was postponed as the procedure is not available in Kuwait and could not be done abroad because of financial reasons