0
A 8-year-old boy with history of recurrent cutaneous Staphylococcal infections from infancy is referred for further evaluation secondary to an abnormal reported peripheral blood smear review during a recent hospital admission. There is no preceding history of bleeding. Physical examination reveals silver colored hair and mild splenomegaly with no lymphadenopathy. Laboratory workup shows leukocyte count of 6. 700/ J.LL. hemoglobin 12.3 g/dl. and platelet count 376.000/J.LL. Peripheral blood smear is shown below.
What is the most likely diagnosis?
- May-Hegglin anomaly (MHA)
- Chediak-Higashi syndrome (CHS)
- Chronic granulomatous disease (CGD)
- Myeloperoxidase deficiency (MPO deficiency)
- Leukocyte adhesion defect (LAD)
Medicine
B. Peripheral blood smear reveals the presence of giant azurophilic granules in neutrophils. The combination of recurrent pyogenic infections from young age, gray-silver hair discoloration, and the presence of giant azurophilic granules is most consistent with the diagnosis of CHS. CHS is an autosomal recessive disorder and patients with CHS usually present during infancy or early childhood with recurrent pyogenic infections and oculocutaneous albinism. Neutropenia is common, and some cases may manifest mild degrees of bleeding tendency. Of interest a similar disorder occurs in mink, who are inbred for their unusual color (silver-gray), but usually expire by 1 year of age. May-Hegglin anomaly usually presents with giant platelets, thrombocytopenia and less dramatic neutrophil inclusions, with no increased inci dence of infections. The presentation described is not typical of CGD, MPO deficiency or LAD ( Curr Opin Hematol. 2008;15(1):22, Blood. 1976;47(6):941, Br J Haematol. 1985;59(3):471).
need an explanation for this answer? contact us directly to get an explanation for this answer