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Kostmann's Syndrome - 2.

Kostmann's Syndrome - 2.
#00002960
Author: John Lazarchick
Category: Myeloid Disorders > Congenital Neutropenia syndromes
Published Date: 10/29/2012

The patient is a 10 month old Caucasian male with a history of recurrent upper respiratory infections and otitis media since birth. His CBC at this time included a H/H of 10.9g/dl/32.4%, platelet count of 280,000/ul and a WBC of 3840/ul with a differential of 25% monocytes, 70% lymphocytes, 4% eosinphils, 1% basophils and 1% neutrophils. His ANC was 38/ul. After an extensive evaluation he was diagnosed as having congenital neutropenia consistent with Kostmann's syndrome. The peripheral smear confirmed the leukopenia and almost complete absence of neuutrophils. A single hyposegmented PMN can be seen in this view. A touch preparation done on the marrow biopsy shows a marked increase in myeloid precursors without evidence of maturation. Most myeloid cells present are either at the promyelocytic or myelocytic stages of maturation. In addition, eosinphils are increased. There is also an increase in small to intermediate sized lymphocytes.