Agranulocytosis in a 15-months old girl: congenital neutropenia or cyclic neutropenia

We report on a 15-months-old girl with a history of recurrent phlegmones of the lower eyelid, dacryocystitides, conjunctivities and mucositis together with growth-retardation, chronic obstipation and anal prolaps. During a pe riod of 19 days absolute neutropenia was observed. Retrospectively, neutrop hil counts were between 0-500/mu l from birth on. Bone marrow biopsy reveal ed an arrest of maturation of granulopoiesis at the stage of promyelocytes. Continuous therapy with 10 mu g/kg/d of recombinant human granulocyte-colo ny stimulating factor (G-CSF) induced 12-day oscillations of blood neutroph il counts. There were no oscillations of counts of other blood cell lines. Growth retardation and prolaps of anus normalized, and few intercurrent bac terial infections, pneumonia and impetigo contagiosa occurred. A mutation i n the G-CSF-receptor gene was not found in this patient. Monosomia 7 was ex cluded. After 2 years of therapy, a reduction of rhG-CSF dose (application every 2 days) lead to a severe neutropenia. Discussion: History and hematological findings were compatible with both co ngenital neutropenia and cyclic neutropenia. However, oscillations of neutr ophils after treatment with rhG-CSF suggested cyclic neutropenia. Since cli nical predisposition for infections, pathogenesis, therapeutic regimes and long term outcome differ significantly between the two, an attribution to o ne of these subtypes of severe chronic neutropenia is important.