Pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant

We have identified a novel pathogenic variant in the gene causing FHBL in pediatric patients with hypocholesterolemia and fatty liver disease. This case illustrates the importance of genetic testing for dyslipidemias in patients with significant decreases in plasma cholesterol as we can avoid damaging neurological and ophthalmological effects by sufficient vitamin supplementation and regular follow-ups.