Gopaal Nishant, Sharma Jagdish N, Agrawal Vijay, Lora Sawai S, Jadoun Laxman S
Pediatric Medicine, Swai Man Singh Medical College, Jaipur, IND.
Cureus. 2020 Nov 13;12(11):e11467. doi: 10.7759/cureus.11467.
Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections, progressive neurologic abnormalities, coagulation defects and a high risk of developing hemophagocytic lymphohistiocytosis characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult with poor prognosis. Here, we report a two-and-a-half-year-old male child who was diagnosed with Chediak-Higashi Syndrome based on silvery hair, pathognomonic hair microscopy and giant azurophilic granules in granulocytes. The patient was in advanced stage of HLH induced by an Epstein-Barr virus (EBV) infection and given etoposide, cyclosporine and dexamethasone according to hemophagocytic lymphohistiocytosis (HLH)-2004 protocol but did not survive.
切迪阿克-希加希综合征（CHS）是一种罕见的常染色体隐性疾病，其特征为眼皮肤白化病、复发性细菌感染、进行性神经异常、凝血缺陷以及发生噬血细胞性淋巴组织细胞增生症的高风险，该病症表现为全血细胞减少、高热以及肝脏、脾脏和淋巴结的淋巴细胞组织细胞浸润。加速期CHS的治疗困难，预后不良。在此，我们报告一名两岁半的男童，根据其银发、特征性毛发显微镜检查以及粒细胞中的巨大嗜天青颗粒，被诊断为切迪阿克-希加希综合征。该患者处于由爱泼斯坦-巴尔病毒（EBV）感染诱发的HLH晚期，根据噬血细胞性淋巴组织细胞增生症（HLH）-2004方案给予依托泊苷、环孢素和地塞米松治疗，但未能存活。
