Chediak-Higashi syndrome: A rare case report

Abstract

This case report is of a 5 year old male child with progressive distension of the abdomen, breathlessness, fever, pallor and abnormal discoloration of the body and hair since the age of 2 years and diagnosed as rare disease called Chediak-Higashi Syndrome (CHS). Chediak-Higashi syndrome (CHS) is a childhood autosomal recessive disorder of the immune system that affects multiple systems of the body. Patients exhibit hypopigmentation of skin, eyes, and hair, prolonged bleeding time, recurrent infections, easy bruisability, abnormal natural killer cell function and peripheral neuropathy. Mutations have been found in CHS1 gene or LYST and are localised to bands 1q42-43 which lead to abnormal intracellular protein transport.