Dr.B.Vijaya Lakshmi

Abstract

39 Day old male baby presented to the emergency department with a history of cough and cold which increased gradually over a period of 3 days. The baby was born of a third-degree consanguineous marriage, term baby cried immediately after birth with a birth weight of 2.4 kg. The maternal grandfather had a history of sudden death at a young age. On examination, the child was diagnosed with LRTI with bronchiolitis with hepatosplenomegaly. The child was sent for a routine fundus examination, revealing a milky white appearance of retinal vessels suggestive of lipaemia retinalis.
The child was investigated and found to have coagulated samples and high levels of total cholesterol, triglycerides, VLDL, LDL, and HDL and was diagnosed to have familial hyperlipidemia disorder. The child was started on special formula along with breastfeeding and the baby thrived well.
Parents and siblings were screened and found to have normal fundus and lipid levels.