一名患有1型高脂蛋白血症的29日龄婴儿出现视网膜脂血症。

Lipaemia retinalis in a 29-day-old infant with type 1 hyperlipoproteinaemia.

作者信息

Hayasaka S, Fukuyo T, Kitaoka M, Suzuki H, Omura K, Kondo Y, Nakagawa M

出版信息

Br J Ophthalmol. 1985 Apr;69(4):280-2. doi: 10.1136/bjo.69.4.280.

DOI:10.1136/bjo.69.4.280

PMID:3994945

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1040583/

Abstract

A 29-day-old infant born of consanguineous parents had type 1 hyperlipoproteinaemia associated with lipaemia retinalis. Biochemical analyses disclosed hypertriglyceridaemia, hyperchylomicronaemia, and lipoprotein lipase deficiency. Ophthalmoscopically all retinal vessels had the creamy appearance of lipaemia retinalis. The plasma lipoprotein levels and fundus condition became normal after her ingestion of fat was limited. To our knowledge this is the youngest patient reported with type 1 hyperlipoproteinaemia associated with lipaemia retinalis.

摘要

一名29天大、父母为近亲结婚的婴儿患有1型高脂蛋白血症并伴有视网膜脂血症。生化分析显示有高甘油三酯血症、高乳糜微粒血症和脂蛋白脂肪酶缺乏。眼底镜检查发现所有视网膜血管均呈现视网膜脂血症的乳脂状外观。在限制其脂肪摄入后，血浆脂蛋白水平和眼底状况恢复正常。据我们所知，这是报告的患有1型高脂蛋白血症并伴有视网膜脂血症的最年幼患者。