Chediak-Higashi Syndrome: A Case Report

Authors

  • 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.

Additional Files

Published

2020-02-04

Issue

Volume.17, Issue-3 (Jul-Sep 2019)

Section

Original article

License

Copyright (c) 2020 Hina Bilal; Farva Raza, Naseer Ahmad

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Readers may “Share-copy and redistribute the material in any medium or format” and “Adapt-remix, transform, and build upon the material”. The readers must give appropriate credit to the source of the material and indicate if changes were made to the material. Readers may not use the material for commercial purpose. The readers may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.

How to Cite

1.
Bilal H. Chediak-Higashi Syndrome: A Case Report. Int J Pathol [Internet]. 2020 Feb. 4 [cited 2024 Jul. 3];17(3):137-9. Available from: https://jpathology.com/index.php/OJS/article/view/475