Baldus M, Zunftmeister V, Geibel-Werle G, Claus B, Mewes D, Uppenkamp M, Nebe T
Medizinische Klinik A, Klinikum der Stadt Ludwigshafen, Ludwigshafen am Rhein, Germany.
Ann Hematol. 1999 Jul;78(7):321-7. doi: 10.1007/s002770050522.
Chédiak-Higashi-Steinbrinck syndrome (CHS) is a rare autosomal recessive disorder which is usually lethal in early childhood. Diagnostic hallmark is the occurrence of giant inclusion bodies in peripheral leukocytes and their bone marrow precursors. We report on a 27-year-old female patient who was admitted for treatment of a skin abscess. She recovered after intravenous antibiotic treatment and surgical incision. Hematological investigation was initiated because of a persisting neutropenia of 15%, with a leukocyte count initially in the normal range but subsequent leukopenia. Case history revealed recurrent skin infections from childhood on, regularly requiring surgical intervention. One year prior to admission a neuropathy had been diagnosed, while a partial albinism had been known for years. Microscopic examinations of peripheral blood and bone marrow aspirate smears were diagnostic for CHS. Additionally, a secondary antibody deficiency was found. Normalization of the white blood cell count, including the differential count, was observed following initiation of G-CSF treatment. Functional assessment of phagocytosis and oxidative burst activity of granulocytes revealed normal results before and after stimulation with G-CSF, however, natural killer cell activity was only weak, with slight improvement after G-CSF treatment in vivo. Cytogenetic analysis showed a normal female karyotype. Although the haploidentical brother of the patient may serve as an allogeneic stem cell donor, transplantation has been postponed because of further deterioration of her already existing CHS-specific neurological impairment. Nevertheless, while receiving G-CSF maintenance treatment our patient experienced no further infectious episodes within 6 months after diagnosis of CHS.
切迪阿克-东综合征（CHS）是一种罕见的常染色体隐性疾病，通常在儿童早期致命。诊断标志是外周血白细胞及其骨髓前体细胞中出现巨大包涵体。我们报告了一名27岁女性患者，因皮肤脓肿入院治疗。她在接受静脉抗生素治疗和手术切开后康复。由于持续存在15%的中性粒细胞减少，开始进行血液学检查，白细胞计数最初在正常范围内，但随后出现白细胞减少。病史显示，患者自童年起就反复出现皮肤感染，经常需要手术干预。入院前一年诊断出神经病变，而部分白化病已存在多年。外周血和骨髓涂片的显微镜检查诊断为CHS。此外，还发现了继发性抗体缺乏。开始使用粒细胞集落刺激因子（G-CSF）治疗后，白细胞计数（包括分类计数）恢复正常。粒细胞吞噬功能和氧化爆发活性的功能评估显示，在G-CSF刺激前后结果正常，然而，自然杀伤细胞活性仅较弱，在体内接受G-CSF治疗后略有改善。细胞遗传学分析显示为正常女性核型。尽管患者的单倍体相合兄弟可作为异基因干细胞供体，但由于其已存在的CHS特异性神经损伤进一步恶化，移植已被推迟。尽管如此，在接受G-CSF维持治疗期间，我们的患者在诊断为CHS后的6个月内未再发生感染性发作。
