Clinical manifestations and outcomes of pediatric chronic neutropenia

Neutropenia is a decrease in the number of circulating neutrophils. When neutropenia persists for more than 3 months, it becomes chronic. A heterogeneous group of diseases in children can cause chronic neutropenia. The aim of the present study was to categorize the diseases and present their clinical manifestations, treatment, and outcomes.

Medical charts of patients with pediatric chronic neutropenia from the last 21 years (1988-2008) were reviewed in a tertiary referral center.

Twenty-nine patients were documented during the study period: seven with congenital neutropenia syndromes (CNSs), seven with autoimmune neutropenia (AIN), and 15 with chronic idiopathic neutropenia (CIN). Three CNS patients had severe chronic neutropenia, one had the Chediak-Higashi syndrome, one had the hyper-IgM syndrome, one had the glycogen storage disease type Ib, and one had the Barth syndrome. CNS patients had severe neutropenia early with frequent infections causing high morbidity and mortality. CNS patients usually required prophylactic antibiotics, granulocyte colony-stimulating factor therapies, or umbilical cord blood transplantations to improve or correct clinical conditions. However, most AIN and CIN patients later recovered spontaneously and did not require granulocyte colony-stimulating factor therapy. The mean absolute neutrophil count at onset, the mean onset age of neutropenia, and the mean duration of neutropenia of the two groups of patients did not significantly differ. Some AIN patients had anemia, and some CIN patients had anemia and/or thrombocytopenia.

It is difficult and risky to draw any conclusion from such a small-scale study; however, we believe that promptly diagnosing underlying diseases and administering appropriate disease-oriented therapy would be crucial for the treatment of patients with chronic neutropenia, particularly with regard to CNSs.