A Chronicle of Survival: A Case Study of Chediak Higashi Syndrome with Good Outcome in Pakistan

Chediak Higashi syndrome is a unique hereditary disorder characterized by oculocutaneous albinism, mild coagulation defects, progressive neurological deficit, and an immense risk of developing hemophagocytic lymphohistiocytosis (HLH).On that account, we report a case of a three-year-old child with Chediak Higashi syndome in Rawalpindi, Pakistan.The diagnosis was established based on the congregation of classical symptoms: ocular and cutaneous hypopigmentation, repetitive infections, bleeding diathesis, and the pathognomic presence of giant granules in white blood cells.Though the prognosis of this disease is poor in the accelerated phase with a high mortality rate, our patient upon timely diagnosis and Hematopoietic stem cell transplantation is living a healthy life now at the age of four years.