Ahluwalia J, Pattari S, Trehan A, Marwaha R K, Garewal G
Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Pediatr Hematol Oncol. 2003 Oct-Nov;20(7):563-7. doi: 10.1080/08880010390232790.
The authors describe an Indian child, who presented in the accelerated phase of the Chédiak-Higashi syndrome. The disease usually presents in early childhood with recurrent skin and mucosal infections. This patient had subtle pigmentary abnormalities and no family history of the disease, which made the clinical diagnosis difficult. The cytopenias, hepatosplenomegaly, lymphohistiocytic infiltrate in the bone marrow, and the characteristic granules in the leucocytes clinched the diagnosis. This case underscores the importance of a bone marrow examination in patients with unusual presentations of rare disorders.
作者描述了一名患有切迪阿克-希加希综合征加速期的印度儿童。该疾病通常在幼儿期出现，伴有反复的皮肤和黏膜感染。这名患者有细微的色素沉着异常，且无该病家族史，这使得临床诊断较为困难。血细胞减少、肝脾肿大、骨髓中的淋巴细胞组织细胞浸润以及白细胞中的特征性颗粒确诊了该疾病。这个病例强调了对罕见疾病不寻常表现患者进行骨髓检查的重要性。
