Kostmann's syndrome

Kostmann's syndrome is a rare congenital disorder of neutrophil production due to impairment of myeloid differentiation in the bone marrow, with the neutrophil count being characteristically less than 500 x 10(3) cells/l (normal: 2-7 x 10(9)/l). Severe persistent neutropenia results in an increased susceptibility to frequent bacterial infections. The condition can be treated with recombinant human granulocyte colony-stimulating factor (G-CSF). Although several articles have addressed the clinicopathological and haematological aspects of this disorder, little or no information has been available concerning the radiological findings in this disorder. This report summarizes the clinical features, radiological findings and management of a patient with Kostmann's syndrome.