Patne Shashikant C U, Kumar Sandip, Bagri Narendra Kumar, Kumar Ashok, Shukla Jyoti
Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221 005 Uttar Pradesh India.
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221 005 Uttar Pradesh India.
Indian J Hematol Blood Transfus. 2013 Jun;29(2):80-3. doi: 10.1007/s12288-011-0130-y. Epub 2012 Feb 1.
Chédiak-Higashi syndrome (CHS) is an extremely rare autosomal recessive immunodeficiency disorder. Approximately 200 cases have been reported worldwide. To the best of our knowledge, not more than 10 cases have been reported from India. Herein we are reporting a case of CHS in one-and-half-year-old boy who presented to us in the accelerated phase of disease. Other syndromes presenting with similar clinical features have also been discussed.
切-东综合征(CHS)是一种极为罕见的常染色体隐性免疫缺陷疾病。全球已报告约200例病例。据我们所知,印度报告的病例不超过10例。在此,我们报告一例1岁半患切-东综合征的男孩,该患儿就诊时处于疾病的加速期。同时也讨论了具有相似临床特征的其他综合征。