Chediak-Higashi Syndromein Accelerated Phase: A Case Report
Keywords:
Chediac-Higashi syndrome,, large azurophilicgranules, repeated bacterial infections,, albinism, progressive peripheral neuropathy, cranial nerve abnormalities, silvery grey hair accelerated phase, lymphohistiocytic infiltrationAbstract
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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Copyright (c) 2018 Maryam Zulfiqar, Asma Mustafa, Bushra Anam Ali, Lubna Naseem
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