Kostmann's syndrome, or congenital neutropenia, is a rare form of hereditary neutropenia inherited as an autosomal recessive trait in which the neutrophils fail to reach a mature and functional state. Kostmann originally described this condition in 1956 in a patient with severe congenital neutropenia without additional hematological changes or other congenital abnormalities.

Granulocyte colony stimulating factor (G-CSF), commercially available as Neupogen (filgrastim; Amgen, Thousand Oaks, CA, USA), is frequently successful at raising the neutrophil count; however, most patients die from severe infection (1).

We report a case of a six-week-old Hispanic girl diagnosed with Kostmann's syndrome referred to our institution for multiple soft tissue infections associated with neutropenia. The baby was born as a full-term newborn by spontaneous vaginal delivery. Two weeks after birth, she developed pustules and cellulitis on her neck, which resolved with intravenous cefazolin. Two weeks later, the patient developed cellulitis on her buttocks and perineum. The initial complete blood count on admission showed a white blood cell count of 15.7 × 109/L, hemoglobin of 12.3 g/dL, and a platelet count of 408 × 109/L, with 0% neutrophils, 50% lymphocytes, 48% monocytes, 1% atypical lymphocytes, and 1% basophils. The absolute neutrophil count was 0. The specimen for bacterial culture taken from the infected site was positive for Pseudomonas, Enterococcus, and Enterobacter. Blood cultures obtained during that time were negative.

The patient received Neupogen and granulocyte concentrate via a daily apheresis session for a total of 14 days. She gradually improved and her skin lesions healed well. Her white blood cell count increased to 31 × 109/L, and she was discharged home with continuation of G-CSF injections when needed as determined by ongoing clinical evaluation.


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