%0 Journal Article
%T Two Case Reports of Familial Chylomicronemia Syndrome
%A Yan-Hui Chen
%A Zhong-Ling Ke
%A Yan-Xia Wang
%A Yong Wang
%A Yong-Zhi Zheng
%J Case Reports in Pediatrics
%D 2012
%I Hindawi Publishing Corporation
%R 10.1155/2012/384719
%X Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years. 1. Case Reports Case A A 55-day-old boy, G2P2, who was delivered by cesarean section in full-term pregnancy and was breast-fed, presented at 30 days of age with a short history of brown looser stools, two or three times a day, medium in amount. When he was 40 days old, the baby¡¯s face became pale without any petechiae or ecchymoses on skin, and the color of the feces became deeper and deeper till it became completely dark. The local hospital found that the blood of the baby is pink; they were confused and suggested that he be admitted to our hospital. Physical examination revealed a well-developing baby, with a severe anemia appearance. The head circumference of the baby was 40£¿cm, and the weight of the baby was 5.1£¿kg. There were two yellow small ulcers in his palate. His abdomen was soft, and the edge of the liver was 2£¿cm below the right costal margin, while the spleen was palpable 1£¿cm below the left costal margin. Both the liver and the spleen were soft and smooth. The limbs were normal. There was not any family history of the hyperlipidemia, xanthoma, or pancreatitis. Fasting serum lipids, which included triglyceride (TG) and cholesterol (CHOL) of the baby¡¯s parent, were normal. Laboratory examinations include the baby blood routine testing which showed that the hemoglobin (Hb) cannot be tested, while it included red blood cell counts (RBCs) of £¿L£¿1, white blood cell counts (WBCs) of £¿L£¿1, platelet counts of £¿L£¿1, and the percentage of the neutrophilic segmented granulocyte being 86.0%, the percentage of lymphocyte 2.7%, hematocrit (HCT) 15.4%, and mean corpuscular volume (MCV) 105.5£¿fL. The coagulation function was normal. The fecal occult blood test was positive. The liver function test showed total protein (TP) 43.0£¿g¡¤L£¿1, albumin (ALB) 26.0£¿g¡¤L£¿1£¬CHOL 17.51£¿mmol¡¤L£¿1, TG 209.00£¿mmol¡¤L£¿1, high-density lipoprotein cholesterol (HDL-C) 2.08£¿mmol¡¤L£¿1, low-density lipoprotein cholesterol (LDL-C) 0.25£¿mmol¡¤L£¿1, apolipoprotein A1 (APOA1) 0.72£¿g¡¤L£¿1, apolipoprotein B (APOB) 0.50£¿g¡¤L£¿1, and lipoprotein a (Lp a) 605£¿mg¡¤L£¿1. The marrow smear showed active proliferation, the ratio of myeloid was 58.5%, and the ratio of erythroid cells was 8.00%. The form and proportion of cells in the different phases were normal and the myeloid proliferates actively while the erythroid hyperplasia was depressed. The size, shape, and color of the mature red blood
%U http://www.hindawi.com/journals/cripe/2012/384719/