Abstract
We report a case of familial lipoprotein lipase deficiency. The patient was a 41-days-old female infant. The parents are second cousins. At about 25 days of age, she was noted eruptive xanthoma over the face and the trunk. At 41 days of age, she was noted poor sucking ability and was taken to a hospital. Hepatosplenomegaly, lipemia retinalis and foam cells in bone marrow were noted. The plasma was separated to a thick creamy layer and a clear infranatant after 48 hours in a refrigerator. Chemical analysis disclosed markedly elevated hypertriglyceride level. Lipoprotein electrophoresis showed a pattern of type I hyperlipoproteinemia. PHLA of the patient was within normal limit, but LPL was selectively deficient. Moderate deficiency of PHLA, LPL, and H-TGL was noted in her mother. The patient was diagnosed as familial LPL deficiency and her mother as heterozygote. After the administration of the MCT formula, the turbidity of the plasma was resolved and marked reduction of the serum triglyceride concentration was observed.
