CHEDIAK-HIGASHI SYNDROME: A RARE CASE

Amit Garg*, Anshul Singla, Dr. Bhavika Singla, P. Nigwekar, D.Y. Shrikhande

ABSTRACT

Chédiak-Higashi syndrome (CHS) is a childhood autosomal recessive disorder of the immune system. It affects multiple systems of the body. Patients exhibit hypopigmentation of skin, eyes, and hair, prolonged bleeding time, recurrent infections, easy bruisability. Mutations have been found in CHS1 gene or LYST and are localised to bands 1q42-43. These mutations lead to abnormal intracellular protein transport. 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 a rare disease entity called Chediak-Higashi Syndrome (CHS).

Keywords: Chediak Higashi, Hemophagocytic lympho-histiocytocis, Hematopoietic stem cell transplantation.