Mazariegos-Godínez Blanca-María, Pérez-Chavarría Edgar-Leonel, Garbiñe R, Mansilla Juan-José, Fumagalli I, Cabrera J, Anzueto E

Language: Spanish
References: 5
Page: 68-72
PDF size: 231.29 Kb.

ABSTRACT

A case is presented of a 6-year-old male patient with silvery hair, who was haemodynamically stable, with growth and development appropriate for his age, leading initially to a suspicion of Griscelli syndrome type 3. However, upon further investigations, light microscopy revealed pigment granules in the hair shafts distributed symmetrically, as well as intracytoplasmic granules in neutrophils on peripheral blood smear, raising suspicion of Chediak–Higashi syndrome. Based on these findings, molecular studies were performed, identifying a mutation in the LYST gene, confirming that the patient had an immunodeficiency due to impaired phagocytosis. The prognosis in these patients is poor, with a survival of less than 10 years due to the risk of haemophagocytic lymphohistiocytosis. However, our patient presented a mild form, which is diagnosed in only 10–15% of affected individuals.

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