An Infant with Milky Serum and a Rare Mutation

Behera, Jyoti Ranjan; Pattanaik, Sibabrata; Kumar, Mukesh

An Infant with Milky Serum and a Rare Mutation

Files

ip2020v57n1p73.pdf (16.77 KB)

Date

2020-01

Authors

Behera, Jyoti Ranjan

Pattanaik, Sibabrata

Kumar, Mukesh

Publisher

Indian Academy of Pediatrics

Abstract

A 40-day-infant having milky serum, eruptive xanthomas,hepatosplenomegaly, lipemia retinalis, high cholesterol andtriglyceride, was found to have lipoprotein lipase (LPL) deficiencyon genetic workup. Triglyceride decreased with dietary fatrestriction, medium chain triglyceride and fibrates.LPLdeficiency in early infancy can be treated with pharmacologicaland dietary interventions.

Keywords

Hypertriglyceridemia, Lipoprotein lipase, Outcome

Citation

Behera Jyoti Ranjan, Pattanaik Sibabrata, Kumar Mukesh. An Infant with Milky Serum and a Rare Mutation. Indian Pediatrics. 2020 Jan; 57(1): 73-74

URI

https://imsear.searo.who.int/handle/123456789/199459

Collections

Indian Pediatrics

Full item page