Infantile congenital aneutrocytosis.

In 1956 Kostmann reported a new disease of infancy which he termed 'infantile genetic agranulocytosis'. He described 14 children of both sexes in nine families. All but two of the children died as a result of the disease. For six of them detailed clinical and histological data were reported. The disease occurs during early infancy with infections particularly of the skin. There is a complete or almost complete lack of polymorphonuclear neutrophil leucocytes in the peripheral blood, and the bone marrow shows a marked retardation or block in the maturation of the myelopoietic cells. All of the affected children in his report lived in the northern part of Sweden. Close consanguinity between the parents was established in five of the nine families. Kostmann presented a genetic analysis which supported the conclusion that the disease was primarily caused by a single recessive autosomal gene (a simple recessive mutation). Since Kostmann's original report three additional cases belonging to the same families have been examined (Kostmann, 1960). Hedenberg (1959) described a case of agranulocytosis discovered in a girl at the age of 1 week. He found good agreement with infantile genetic agranulocytosis. In his case there was no consanguinity between the parents. The family lived in the southern part of Sweden, and there was no relationship to the families described by Kostmann. Outside Sweden, Luhby, Speer, Lee and Shapiro (1957) described an infant who presented with agranulocytosis at 2 weeks of age; it persisted until the child died of an overwhelming infection when 7 months old. The authors concluded that the case represented a congenital genetic agranulocytosis due to an inborn error of development and maturation of the neutrophils. They found the condition apparently identical to that described by Kostmann. Kniker and Panos (1957) studied two infants aged 7 and 30 months, both of whom had fatal agranulocytosis. They stated that the clinical, laboratory and pathological features closely fitted the syndrome described by Kostmann. However, all cases on record outside those belonging to the families reported by Kostmann have failed to show hereditary or genetic factors. The number of reported cases of this syndrome is still small, although this deleterious mutation seems now to occur in different areas. The purpose of this paper is to present a further case with typical clinical and laboratory findings.