Chediak-Higashi-Steinbrinck syndrome (CHS) in a 27-year-old woman - effects of G-CSF treatment

Chediak-Higashi-Steinbrinck syndrome (CHS) is a rare autosomal recessive di sorder which is usually lethal in early childhood. Diagnostic hallmark is t he occurrence of giant inclusion bodies in peripheral leukocytes and their bone marrow precursors. We report on a 27-year-old female patient who was a dmitted for treatment of a skin abscess. She recovered after intravenous an tibiotic treatment and surgical incision. Hematological investigation was i nitiated because of a persisting neutropenia of 15%, with a leukocyte count initially in the normal range but subsequent leukopenia. Case history reve aled recurrent skin infections from childhood on, regularly requiring surgi cal intervention. One year prior to admission a neuropathy had been diagnos ed, while a partial albinism had been known for years. Microscopic examinat ions of peripheral blood and bone marrow aspirate smears were diagnostic fo r CHS. Additionally, a secondary antibody deficiency was found. Normalizati on of the white blood cell count, including the differential count, was obs erved following initiation of G-CSF treatment. Functional assessment of pha gocytosis and oxidative burst activity of granulocytes revealed normal resu lts before and after stimulation with G-CSF, however, natural killer cell a ctivity was only weak, with slight improvement after G-CSF treatment in viv o. Cytogenetic analysis showed a normal female karyotype. Although the hapl oidentical brother of the patient may serve as an allogeneic stem cell dono r, transplantation has been postponed because of further deterioration of h er already existing CHS-specific neurological impairment. Nevertheless, whi le receiving G-CSF maintenance treatment our patient experienced no further infectious episodes within 6 months after diagnosis of CHS.