Paediatrics Publications
Document Type
Article
Publication Date
6-2017
Journal
Paediatric Child Health
Volume
22
Issue
3
First Page
115
Last Page
116
URL with Digital Object Identifier
https://doi.org/10.1093/pch/pxx036
Abstract
CASE DESCRIPTION
An 8-year-old girl was referred for abdominal pain and elevated liver transaminases. She was previously healthy and was not on any medications. There was no prior history of blood transfusions, toxin exposures or parenteral nutrition. Her parents were nonconsanguineous, and of French and Irish descent. Her family has no history of liver diseases but maternal and paternal grandparents have elevated cholesterol. Her weight was 25.5 kg (27th percentile), height 127 cm (21st percentile) and body mass index (BMI) was 15.8 kg/m2 (42nd percentile). On abdominal examination, both liver and spleen were enlarged. There was no scleral icterus or abnormal skin findings or xanthomatosis. Her liver enzymes revealed elevated transaminases. Total bilirubin was high at 32.7 (
