AN INFANT PRESENTING WITH MILKY SERUM: A RARE CASE REPORT

S. Varsha, Shubha Hv, Vivek Tg, C. Vijaya
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Abstract

: Lipid disorders can occur either as primary event or secondary to an underlying disease. Primary dyslipidemias are associated with overproduction or impaired removal of lipoprotein. An abnormality in the lipoprotein itself or in the lipoprotein receptor induces impaired removal of lipoprotein. Hypertriglyceridemia is defined as having plasma triglyceride above the 95 th percentile for age and sex. It is a rare disorder in childhood. We present a case of six months old male infant who was admitted in our hospital with the history of anemia. Infant was detected to have highly viscous and milky serum during the sampling of blood coincidentally. The serum triglyceride and cholesterol levels were markedly raised. There were no typical signs of hyperlipidemia like growth failure, dysmorphic features, hepatosplenomegaly, eruptive cutaneous xanthomas or lipemia retinalis. There was also no positive family history of hyperlipidemia. A clinical diagnosis of Type I hypertriglyceridemia was made and the infant was put on lipid lowering drugs and iron drops. Infant responded well to the treatment. Hemoglobin levels improved with the improving lipid profile parameters. Early diagnosis and intervention can therefore, improve the prognosis by reducing the complications and preventing the premature death.
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婴儿乳白色血清:罕见病例报告
脂质紊乱既可作为原发事件发生,也可继发于潜在疾病。原发性血脂异常与脂蛋白的过量产生或去除受损有关。脂蛋白本身或脂蛋白受体的异常会导致脂蛋白的清除受损。高甘油三酯血症定义为血浆甘油三酯高于年龄和性别的第95百分位数。这是一种罕见的儿童疾病。我们提出一个6个月大的男婴谁是入院与贫血的历史。凑巧的是,在抽血过程中发现婴儿血清呈高粘稠乳状。血清甘油三酯和胆固醇水平明显升高。没有典型的高脂血症症状,如生长衰竭、畸形特征、肝脾肿大、爆发性皮肤黄斑瘤或视网膜脂血症。也无高脂血症家族史。临床诊断为I型高甘油三酯血症,给予降脂药和铁滴。婴儿对治疗反应良好。血红蛋白水平随着血脂参数的改善而改善。因此,早期诊断和干预可以通过减少并发症和预防过早死亡来改善预后。
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