Kostmann's syndrome

Kostmann's syndrome

[kost′mahnz]

infantile genetic agranulocytosis.

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agranulocytosis [a-gran″u-lo-si-to´sis]

an acute disease in which there is a dramatic decrease in the production of granulocytes, so that a pronounced neutropenia evolves, leaving the body defenseless against bacterial invasion. A great majority of cases are caused by sensitization to drugs or chemicals that affect the bone marrow and depress the formation of granulocytes. Called also malignant or pernicious leukopenia and idiopathic or malignant neutropenia.

Symptoms. The first manifestations are usually produced by a severe infection and include high fever, chills, prostration, and ulcerations of mucous membranes such as in the mouth, rectum, or vagina. Laboratory tests reveal a profound leukopenia (low leukocyte count).

Treatment. Treatment is aimed at immediate withdrawal of the drug or chemical causing the disorder, and control of infection. In most cases control can be achieved by the administration of antibiotics. If the bone marrow is not irreparably damaged, the prognosis is good with proper treatment, and the patient will recover as the production of granulocytes resumes. Occasionally the leukocyte-producing tissues are damaged beyond repair and death ensues.

infantile genetic agranulocytosis a severe congenital condition of virtual absence of neutrophils from the blood; most patients die of infection before reaching adulthood. Called also congenital neutropenia and Kostmann's syndrome or neutropenia.