Rajajee Sarala, Sathyasekaran Malathi, Shankar Janani, Dhathathri Latha
Department of Pediatric Medicine, Kanchi Kamakoti Childs Trust Hospital, Chennai, India.
Indian J Pediatr. 2002 Sep;69(9):821-2. doi: 10.1007/BF02723699.
A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.
一名5岁男孩自婴儿期起就有发育不良的病史。有一个兄弟姐妹因类似问题死亡的病史,其母亲有多次严重流产史。外周血涂片的常规检查显示棘形红细胞超过50%。基于此,进一步的检查简化为进行血脂谱和脂蛋白电泳,结果显示血脂过低且β-脂蛋白带缺失。空肠黏膜活检证实了无β-脂蛋白血症的诊断,活检显示肠细胞内有脂质沉积。这个病例说明了外周血涂片检查等简单检查在简化重大疾病诊断中的进一步检查方面的重要性。