Child-onset hepatic glycogenosis and steatosis in PTEN-related disorder

Abstract

Bannayan-Riley-Ruvalcaba syndrome is a rare PTEN -related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis. We describe a novel pathogenic variant of PTEN , c.48del (p.Gln17LysfsTer7), along with the first description of hepatic glycogenosis and steatosis in a child with BRRS. We proposed that the mutation likely led to a release of the inhibition of the insulin signaling pathway in the liver, leading to increased glycogen production and de novo synthesis of fatty acids, as previously shown in mice. Our data further extend possible metabolic complications of PTEN -related disorder.