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Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder due to LYST/CHS1 gene mutation. It is characterized by frequent bacterial infections, partial oculo-cutaneous albinism and abnormal large leucocyte granules. It is also associated with clinical features involving the haematologic and neurologic systems. In 85% cases, CHS enters an accelerated phase consisting of lympho-histiocytic infiltration of the liver, spleen, lymph nodes and bone marrow. Once the accelerated phase has occurred, the disease is invariably fatal. There are only around 500 cases of CHS reported up to 2011. According to the literature, onset of disease is from 2 months to 10 years. However, the accelerated phase has only been reported in babies 9 months of age or more. We report a 2 month old boy with CHS in the accelerated phase.

A 2 month old infant with Chediak-Higashi syndrome presenting in the accelerated phase