Maryam Zulfiqar, Asma Mustafa, Bushra Anam Ali, Lubna Naseem.
Chediak-Higashi Syndromein Accelerated Phase: A Case Report.
Int J Pathol Jan ;15(3):125-8.
Chediak Higachi Syndrome (CHS) is a very rare autosomal recessive disorder which presents with repeated bacterial infections, albinism, progressive peripheral neuropathy, cranial nerve abnormalities and patients have characteristic silvery grey hair and giant bluish grey granules in cytoplasm of white blood cells. Late stages presents with accelerated phase of this disease which is characterized by lymphohistiocytic infiltration of spleen, liver and lymph nodes. Here, we report a case of one year old child who presented to us in accelerated phase of CHS and diagnosis was made on clinical characteristic findings and presence of largeazurophilic granules in granulocytes and lymphocytes in peripheral blood smear and bone marrow.
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