Author(s): Swati Raj* , Durre Aden, Srishti Soni and Naveen Thapliyal
Chediak Higashi Syndrome is a rare autosomal recessive disease come in picture early in age, mainly paediatric group and is fatal. In India, till the year 2000, only five cases have been reported. In this study ,we present all the cases reported in India, their clinical presentation, CBC ,PBS ,Bone marrow findings, skin biopsy or hair study (if performed) and their correlation to see the accelerated phase of the disease and approach to the management. Determined peripheral blood smear examination is the key to arrest the diagnosis of Chediak Higashi Syndrome in developing country like India, defining it is the most easiest, quickest, cheap, easily available investigation in our country.
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