Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis

Authors

Snigdha Verma, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India
Vikrant Sood, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, IndiaFollow
Bikrant Bihari Lal, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India
Rajeev Khanna, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India
Chhagan Bihari, Department of Pathology, Institute of Liver and Biliary Sciences, New Delhi, India
Seema Alam, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India

Abstract

Disorders of carbohydrate and lipid metabolism are the leading underlying etiologies of hepatomegaly and hepatic steatosis in young children. With ever increasing access to genetic analysis methods, previously hitherto unknown and under-diagnosed entities like transient infantile hypertriglyceridemia, have been recently added as one of the differential diagnosis for the same. As per the available literature, this entity has been reported to have a benign course, however with increasing number of reported cases, there is yet much more to explore. We hereby present two such pediatric cases presenting with infantile onset hepatomegaly and hepatic steatosis along with a review of literature for this entity.

Recommended Citation

Verma, Snigdha; Sood, Vikrant; Bihari Lal, Bikrant; Khanna, Rajeev; Bihari, Chhagan; and Alam, Seema (2025) "Infantile Hypertriglyceridemia Secondary to GPD1 Defects: An Underdiagnosed Differential of Infantile Hepatomegaly and Hepatic Steatosis," Journal of Pediatric Genetics: Vol. 14: Iss. 2, Article 5.
DOI: https://doi.org/10.53391/2146-460X.1015
Available at: https://jpg.researchcommons.org/journal/vol14/iss2/5