Obstructive Jaundice r/t hypercholesterolemia

Patient Presentation:
Previously healthy 2 year old female presents to ER with jaundice, severe itching, and acholic stools. No neurological changes. No s/sx of bleeding. No history of recent Tylenol® intake. No significant past medical history. Vital signs: 36.1 axillary temp, HR 88, RR 20, BP 100/56, SpO2 100% on RA. Lung sounds CTA, no URI symptoms. No nausea/vomiting/diarrhea. No palpable liver borders. Patient admitted to inpatient transplant unit for liver failure workup.

Labs:
CBC: normal
Blood glucose (Accucheck): 98
Hepatic panel: ALT 53, AST 38, Alk Phos 393, Total bili 7.4, Direct bili 6.8, GGT 998

Diagnosis/Treatment:
Patient underwent liver biopsy, CT scan, MRI. All were unremarkable. Liver failure workup labs were benign. Blood cultures negative. Viral cultures negative. On a hunch, pediatric transplant attending tested patient’s blood levels of cholesterol. Patient’s total cholesterol came back at 518 mg/dL. Children’s total cholesterol level should be under 170 mg/dL. An ERCP was performed and a gallstone composed of cholesterol was removed. This stone had been causing the obstruction in bile flow which led to the itching, acholic stools, increase in LFTs, and jaundice.

Outcome:
Patient and family were referred to a dietician for dietary changes. Labs were followed closely in the following weeks. No further biliary obstruction has occurred. LFTs now WNL, stools return to normal color and jaundice/itching has ceased.