Clinical Case 16 - Chediak-Higashi syndrome

Patient demography: Child, female aged 2
Diagnosis: Chediak-Higashi syndrome - a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
Other information: Patient monitoring is being carried out at the hospital - the neutrophil granulations increase according to the intensity of the infection. Medication interferon corticosteroids and antibiotics.
Microscopic review: Lymphocytes 72%, myelocyte 7%, metamyelocyte 1%, promyelocyte 1%, monocyte 9%, neutrophils 7%, bands 3%. Presence of large granules in the neutrophil cell line.
Yumizen assistance: The increase in the immature cell count observed in the extended matrix of the Yumizen H2500 helps in the diagnosis of Chediak-Higashi syndrome which has a main morphological characteristic of increased neutrophilic cell granulation. These abnormal neutrophils also generate changes in the LMNE matrix due to the increased light scatter of the granules and relatively high volume of the cells. It appears they may also have a minor impact on the BASO channel.
Analyzer: Yumizen H2500/H1500
Case provided by: a laboratory in Brazil