BACKGROUND Most of the patients with type 1 and V hyperlipoproteinemia (HLP) present with symptoms and signs of acute pancreatitis due to marked elevation of triglycerides, but this baby presented with a chest infection, which was later diagnosed as type V HLP on laboratory workup. CASE PRESENTATION We report a case of a 1 month and 15 days old baby boy, product of 2-nd degree consanguinity admitted to a nearby hospital with complaints of refusal to feed, cough and excessive crying. On examination his heart rate was 102 beats/min, respiratory rate was 55 breaths/min and temperature was within the normal range, provisional diagnosis of Pneumonia was made. His samples were tested at our laboratory, the lipid Profile at age of 1 month 15 days showed total cholesterol (TC) of 1400 mg/dl reference range (RR < 200 mg/dl), triglycerides (TG) of > 885 mg/dl after dilution it was 31,400 mg/dl (RR < 150 mg/dl), High density Cholesterol (HDL) of 35 mg/dl (RR > 40 mg/dl) and low density cholesterol (LDL) of 200 mg/dl (RR < 100 mg/dl). The patient's blood sample was grossly milky and lipemic in appearance. A "Refrigerator test" was performed after overnight storage of the sample in refrigerator at 4 °C, which gave a creamy layer at the top and clear infranatant due to caking of the Chylomicrons. Lipoprotein electrophoresis performed 1 month later showed Chylomicrons of 4.7% (RR 0-2%), Pre-beta lipoproteins of 51.5% (RR 5-22%), beta lipoproteins of 16.5% (RR 39-70%) and alpha of 27.3% (RR 23-53%). Initially he was diagnosed as type 1 HLP, but later on he was correctly diagnosed as type V HLP. Cholestyramine (Questran sachet) powder was started at a dose of 100 mg/kg on t.i.d basis with NAN-1 formula Milk at the age of 1 month and 15 days. On follow up, detailed advices regarding the weaning food was given to the mother (using olive oil in cooking, giving proteins and avoiding heavy fatty meals). His lipid profile was repeated at age of 3 months, which showed some improvement, his TGs were 1986 mg/dl and TC 105 mg/dl. CONCLUSION There is no universal diagnostic criterion for diagnosing Type V HLP, most likely, due to a scanty literature on this disorder. It stimulated us to report this case so that our findings may help for a timely diagnosis of the affected patients.

中文翻译：

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V型高脂蛋白血症（HLP）1个月大和15天大的婴儿的病例报告。

背景技术大多数1型和V型高脂蛋白血症（HLP）的患者由于甘油三酸酯的明显升高而出现急性胰腺炎的症状和体征，但是该婴儿出现了胸部感染，后来在实验室检查中被诊断为V HLP。病例介绍我们报告了一例1个月零15天大的男婴，他被二度血缘病的产品收治到附近的一家医院，并抱怨拒绝进食，咳嗽和过度哭泣。经检查，他的心律为102次/分，呼吸率为55次/分，体温在正常范围内，初步诊断为肺炎。他的样品在我们的实验室进行了测试，在1个月大的15天时的血脂谱显示，总胆固醇（TC）为1400 mg / dl参考范围（RR <200 mg / dl），甘油三酸酯（TG）为> 稀释后为885 mg / dl，为31,400 mg / dl（RR <150 mg / dl），35 mg / dl的高密度胆固醇（HDL）（RR> 40 mg / dl）和200 mg的低密度胆固醇（LDL） / dl（RR <100 mg / dl）。该患者的血液样本外观严重乳白色且脂溢。将样品在4°C的冰箱中过夜保存后，执行“冰箱测试”，由于乳糜微粒的结块，其顶部形成了一层乳脂状的透明清香剂。1个月后进行的脂蛋白电泳显示，乳糜微粒为4.7％（RR 0-2％），β前脂蛋白为51.5％（RR 5-22％），β脂蛋白为16.5％（RR 39-70％），α为27.3 ％（RR 23-53％）。最初他被诊断为1型HLP，但后来他被正确诊断为V HLP。胆甾胺（Questran香囊）粉末以100 mg / kg的剂量开始服用 d以1个月零15天的NAN-1配方奶为基础。随访时，向母亲提供了有关断奶食物的详细建议（在烹饪中使用橄榄油，提供蛋白质并避免摄入过多的脂肪餐）。在3个月大时，他的血脂状况有所改善，显示出一些改善，他的TGs为1986 mg / dl和TC 105 mg / dl。结论由于有关该疾病的文献很少，因此没有普遍的诊断标准可用于诊断V型HLP。它促使我们报告此病例，以便我们的发现可能有助于及时诊断出受影响的患者。在3个月大时，他的血脂状况有所改善，显示出一些改善，他的TGs为1986 mg / dl和TC 105 mg / dl。结论由于有关该疾病的文献很少，因此没有普遍的诊断标准可用于诊断V型HLP。它促使我们报告此病例，以便我们的发现可能有助于及时诊断出受影响的患者。在3个月大时，他的血脂状况有所改善，显示出一些改善，他的TGs为1986 mg / dl和TC 105 mg / dl。结论由于有关该疾病的文献很少，因此没有普遍的诊断标准可用于诊断V型HLP。这促使我们报告此案，以便我们的发现可能有助于及时诊断出受影响的患者。