A novel pathogenic variant in the LPL gene was identified in an infant with severe hypertriglyceridemia and lipaemia retinalis, who clinically improved on a low-fat diet.
Expands LPL mutational spectrum in severe hypertriglyceridemia; diet response encouraging but persistent retinalis leaves prognosis open.
An infant presented to the paediatric emergency department of our tertiary care centre, with failure to thrive and frequent vomiting for the past 2 days. Venous blood samples appeared pale pink. Bedside smartphone-assisted fundus examination revealed a bilateral salmon-coloured retina with creamy vasculature, suggesting lipaemia retinalis. Serum triglyceride levels of 12 100.7 mg/dL were observed. Exome sequencing confirmed the diagnosis. A novel homozygous missense variant p.Cys 291Tyr (c.872G>A) pathogenic variant in exon 6 of the lipoprotein lipase ( LPL ) gene was discovered. The infant was advised to undergo dietary modification and to follow-up regularly. At 1 year follow-up, the child was thriving on a low-fat diet. However, fundus examination findings persisted.
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