TITLE:
Chediak-Higashi Syndrome Diagnosed from Mutation Carriers
AUTHORS:
Kouamé Cyprien Kouakou, Augustine Djivohessoun, Isabelle Djoman, Andre Marius Gro-Bi, Charlène Soro, Komenan Amoro Mansou, Stella Nyango, Amorissani Folquet
KEYWORDS:
Chediak-Higashi Syndrome, Inbreeding, Genetic Counseling, Hemophagocytic, Lymphoproliferation
JOURNAL NAME:
Open Journal of Genetics,
Vol.14 No.4,
December
19,
2024
ABSTRACT: We report a case of a 9-month-old girl diagnosed as heterozygous to the Chediak-Higashi syndrome (CHS) after the death of her four brothers, who had similar symptoms of severe anemia, recurrent infections, and multiple blood transfusions. Genetic counseling motivated by family history led to targeted genomic DNA analysis, revealing a pathogenic variant of the LYST gene (c.8373_8376del (p.leu2791phefs*7)) in a heterozygous state. The clinical case reviews the pathophysiology and treatment options for CHS, emphasizing the importance of early diagnosis given the life-threatening potential of the disease. The authors advocate for a multidisciplinary approach to management and highlight the potential of genetic counseling to prevent further mortality in families with CHS.