Rapid resolution of infantile lipemia retinalis following exchange transfusion

Excerpt

A 7-week-old female presented with irritability, emesis, fever, and feeding intolerance. She had severe hypertriglyceridemia (15078 mg/dL), hypercholesterolemia (1807 mg/dL), elevated lipase (1533 U/L), and hepatomegaly. Retinal vasculature had a milky pink appearance, consistent with grade III lipemia retinalis (LR), (Fig. 1a-b) with grossly lipemic blood (Fig. 1c-d). Because of the presumed diagnosis of lipoprotein lipase (LPL) deficiency and clinical suspicion for pancreatitis, double exchange transfusion (ET) was undertaken and stabilized dyslipidemia. Repeat funduscopic photographs three days following ET (triglycerides 1284 mg/dL) revealed resolution of LR (Fig. 1e-f). LPL sequencing showed a homozygous pathogenic missense mutation (c.644G>A; p.G215E), confirming the diagnosis of LPL deficiency.

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