Chédial-Higashi syndrome (CHS) in an autosomal recessive disease with delayed microbial killing caused by mutation of the lysosomal trafficking gene termed CHS1 (LYST) gene which is located in the long arm of human chromosome number one (1q)1,2. CHS was described first by Begnez Cesar in 1943 and later by Steinbrick in 1948, Chédial: in 1952 and Higashi in 19543. Chédial: described the full clinical and haematological features including large inclusion like peroxidase positive granules in the blood and bone marrow granulocytes4. About 50-80% of patients enter into an “accelerated phase” which is characterized by generalized lymphohistiocytic infiltrates, fever. jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and bleeding5,6. The disease is often fatal in childhood as a result of infections, bleeding and development of accelerated lymphoma-like phase. Survival into the second and third decades has been reported but invariably leads to premature death7. After the first description of CHS to date, around 170 human cases are mentioned in the literature worldwide.

Allogenic bone marrow or stem cell transplantation is the treatment of choice to correct the haematological manifestation and immunological status in this disease. Bone marrow transplantation (BMT) is indicated before the accelerated phase of the disease develops otherwise the affected children usually die before the age of 10 years. So far, only one patient of CHS underwent BMT from an unrelated donor8. This case report of ours is probably the second till year 2000 and the first case with coexistent hereditary elliptocytosis (HE).

Ibrahim Med. Coll. J. 2008; 2(1): 28-31

Address for Correspondence:

Dr. Md. Sirazul Islam, Department of Laboratory, BIRDEM Hospital, Dhaka, 122 Kazi Nazrul Islam Avenue, Shahbag, Dhaka