Autosomal recessive ELOVL1-related disorder presenting with severe neonatal cholestasis: A novel clinical feature?

ELOVL1-related disorders are typically characterized by neurological and dermatological features. We present a novel case of severe neonatal cholestasis in a female neonate with autosomal recessive inheritance with a homozygous variant in ELOVL1 (c.458G > A; p.Trp153*). The patient demonstrated direct hyperbilirubinemia, low levels of very-long-chain fatty acids (VLCFA), a newborn screen C26 level of 0, and severe cholestasis. Treatment with ursodeoxycholic acid worsened the patient's cholestasis, whereas cholic acid supplementation resulted in significant clinical and biochemical improvement. The ichthyosis resolved with optimal nutrition and topical application of coconut oil moisturizer. This report expands the known phenotypic spectrum of ELOVL1-related disorders to include primary liver dysfunction.