[The Chediak-Higashi syndrome]

Area of Science:

• Hematology
• Immunology
• Genetics

Background:

• Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder.
• CHS is characterized by impaired lysosomal trafficking, leading to giant granules in leukocytes.
• Clinical manifestations include recurrent infections, partial oculocutaneous albinism, and neurological abnormalities.

Observation:

• Detailed morphological analysis of blood and bone marrow in a 4.5-month-old infant with CHS.
• Identification of characteristic giant granules in neutrophils and other myeloid cells.
• Evaluation of peripheral blood smear and bone marrow aspirate findings.

Findings:

• The study presents comprehensive hematological findings in the affected infant.
• Immunological characteristics of the infant's parents are detailed.
• Karyological analysis of the parents is provided, contributing to genetic understanding.

Implications:

• This case report enhances the understanding of CHS morphology in infants.
• Provides valuable data for differential diagnosis of similar hematological conditions.
• Contributes to the genetic and immunological characterization of CHS in affected families.