Hyperlipidemia is increasing prevalent risk factor in children, concomitant with worldwide epidemic of obesity. Lipid disorder can occur either as primary event or secondary to an underlying disease. The primary dyslipidemia are associated with overproductions/or impaired removal of lipoprotein. The latter defect can be induced by an abnormality in either the lipoprotein itself or in the lipoprotein receptor. A 2 month old male baby was found to have highly viscous and milky serum. S. Cholesterol was 2,200 mg/dl and triglycerides 13,292 mg%. There was no dysmorphic feature. Child was anemic and had hepatosplenomegaly and xanthomas. There was positive history of hyperlipidemia in first maternal cousin. Parents of index case had normal lipid profile. The child was put on lipid lowering agents, Iron drops, medium chain fatty acid.Keywords Hypertriglyceridemia Á Xanthoma Á Milky serum
Case ReportA 2 month old male baby was admitted in emergency with excessive cry and abdominal distention. The baby was younger of two siblings, born at term by normal vaginal delivery with birth weight of 3 kg with uneventful antenatal natal and postnatal periods. The child was on exclusively breast feeding since birth.During sampling, his blood was found to be highly viscous and milky (Fig. 1). The child was active and had hepatosplenomegaly and xanthomas (Fig. 2) without dysmorphic features. The child has normal Liver and kidney function test with sterile urine and blood cultures. Ultrasonography showed hepatosplenomegaly with normal liver texture. Electrocardiography and echocardiography results were within normal limits. Ophthalmological examination revealed lipemia retinalis (Fig. 3).Serum was analyzed by using Becman Coulter USA in which LDL, VLDL, HDL done by electrophoresis, TG and S. Cholesterol by Spectrophotometry and Apo A, Apo B S. lipase by immunoturbidimetric technique. Results are obtained as S. cholesterol 2,200 mg/dl (\170 mg/dl), S. triglycerides 13,292 mg% (\150 mg/dl), HDL 94 mg/dl (40-60 mg/dl), VLDL 426 mg/dl (\30 mg/dl), LDL 463.5 mg/dl (\110 mg/dl). Other investigations are Apo B 163 mg/dl (55-140 mg/dl), Apo A 175 mg/dl (110-225 mg/dl), S. lipase 163 mg/dl (0-8 mg/dl), S. amylase 13 U/l, T3 10.8 ng/ml, T4 10.4 lg/dl, TSH 2.4 lIU/ml, S. ca 9.8 mg/dl, S. Phosphorus 3.50 mg/dl, S. Uric acid 5.0 mg/dl, ALP 743 U/l. Routine blood counts revealed Hb \ 8 g/dl.Other sibling and both parents of index case had normal lipid profiles. No history of convulsion, jaundice, bleeding manifestation, skin rash, any premature sudden death or any known case of hyperlipidemia in family members. Developmental milestones were achieved at appropriate age.The child was put on lipid lowering agents, medium chain fatty acid formula, intravenous fluid and blood transfusion given. Lipid profile was repeated after 15 days which showed blood red in color (Fig. 4) with lowering lipid contents as S. cholesterol 984 mg% (normal \ 170 mg%), S. triglycerides 7,828 mg% (normal \ 150 mg%), HDL 94 mg% (normal range 40-60 mg%), VLDL 126 mg% ...