Chediak-Higashi Syndrome: A Case Report

  • Hina Bilal Department of pathology, Federal Medical and Dental College, Islamabad
  • Farva Raza Hematology Section, EXCEL-Labs, Islamabad
  • Naseer Ahmad Hematology Section, EXCEL-Labs, Islamabad
Keywords: Chediak-Higashi syndrome, silver hair, immunodeficiency

Abstract

Chediak-Higashi syndrome (CHS) is an uncommon autosomal recessive disorder. It is presented as partial hypopigmentation of eyes, hair and skin along with recurrent infections, bleeding diathesis and neurological defects. It is a rare disease so much so only five hundred cases have been reported worldwide so far. This disease has two phases accelerated and adolescent or adult phase. Such patients show large peroxidase positive granules in the cytoplasm of leukocytes. It should be differentiated from other causes of albinism presenting with immunodeficiency.

Published
2020-02-04