Hepatomegaly and Hepatic Steatosis as Presenting Features of GPD1-Related Transient Infantile Hypertriglyceridemia in a Consanguineous Family: A Case Report

GPD1-related transient infantile hypertriglyceridemia (HTGTI) is a rare autosomal recessive disorder characterized by early-onset hypertriglyceridemia, hepatomegaly, hepatic steatosis, and elevated aminotransferase levels, with hepatic fibrosis and persistent liver abnormalities reported in some cases.We describe a young child with abdominal distension, marked hepatomegaly, hepatic steatosis on ultrasonography, and an initially reported alanine aminotransferase concentration of 83 U/L.Initial metabolic screening was reported as unrevealing.Solo whole-exome sequencing identified a homozygous GPD1 variant, NM_005276.3:c.953+1G>A,classified as likely pathogenic by the testing laboratory and interpreted as consistent with GPD1-related HTGTI.The available lipid panel showed triglycerides of 133 mg/dL, which does not demonstrate hypertriglyceridemia using the laboratory's stated desirable threshold of less than 150 mg/dL; fasting status and historical lipid results remain to be confirmed.Parent-reported fasting-associated symptoms have not been confirmed by documented glucose measurements.This case highlights the role of molecular testing in unexplained childhood hepatomegaly and steatosis while emphasizing the need to distinguish a molecular diagnosis from biochemical features that are not documented in the available record. Longitudinal assessment of the lipid profile and liver disease, parental variant testing, and genetic counseling are warranted.