Chediak-Higashi Syndrome: A Case Presenting in Accelerated Phase
Sara Benchidmi, Yolande Salome Mimboe, Yasmine Lamghari, Saad Assila, Najat Lamalmi, Ghizlane Jaabouti, Sara Aminou, Ouidad Elqorchi, Naima EL. Hafidi, Chafiq Mahraoui, Soumia Benchekroun
Asian Journal of Medicine and Health · pp. 344–348 · Published 30 Nov 2023
10.9734/ajmah/2023/v21i11953Abstract
Chediak Higashi syndrome (CHS) is an autosomal recessive disorder, caused by biallelic mutations in the highly conserved LYST gene. It is characterized by partial oculocutaneous albinism and immunodeficiency. Approximately 500 cases are reported worldwide. Here we report a case of a twelve years old girl, hospitalized in children’s hospital of Rabat Morocco, who suffered from Chediak higashi syndrome presented in its accelerated phase, the diagnosis was made on the basis of clinical characteristics, hair analysis, and the presence of giant inclusions in peripheral blood smear and in the bone marrow. The only treatment reportedly leading to cure of CHS has been allogeneic hematopoietic stem cell transplantation. Without it, CHS is usually fatal before the age of 10 years because of “accelerated phase” HLH induced by infection. An early diagnosis can improve its prognosis by performing an allogeneic hematopoietic stem cell transplantation before reaching the accelerated phase.
References (5)
- 1 Identification of the homologous beige and Chediak–Higashi syndrome genes [DOI]
- 2 Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome [DOI]
- 3 Chediak–Higashi Syndrome: A Rare Disorder of Lysosomes and Lysosome Related Organelles [DOI]
- 4 Clinical characteristics and outcomes of chédiak–Higashi syndrome: A nationwide survey of Japan [DOI]
- 5 Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
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Mohammed Ayoub Naamane, A. Harrach, Soukaina Boussif · Cureus · 2025
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