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

Year: 2024

Type: article

Abstract: 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.

Source: Medical & Clinical Case Reports Journal

DOI: 10.51219/mccrj/naima-cheema/127

Authors: Naima Cheema, Husam Jamil

Institutions: CMH Kharian Medical College, Calderdale and Huddersfield NHS Foundation Trust

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4403268503

FWCI:

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