Also known as syndromic bile duct paucity

Affects cardiac, musculoskeletal, ocular, facial, and neurodevelopmental systems

Most common inherited disorder that causes chronic liver disease in children

1:100,000 births with equal gender incidence

Cardiac congenital anomaly and hemodynamic instability

Coagulopathy

Liver dysfunction

Musculoskeletal injury from positioning

Cardiac congenital anomaly and hemodynamic instability

Coagulopathy

Liver dysfunction

Musculoskeletal injury from positioning

Vertebral abnormalities

Facial anomalies

Ocular abnormalities

Vitamin deficiencies: A, D, E, K

Neurologic deficits (neuropathy, mental retardation, cerebellar defect)

In addition to liver involvement, includes congenital cardiac disease (97%), dysmorphic face (96%), ocular abnormalities (78%), vertebral anomalies (51%), and kidney malformation (40%).

Disease ranges from mild cholestasis to progressive liver failure.

Liver involvement results in the loss of intralobar ducts over months to years.

Elevated serum bile acids, conjugated bilirubin, alkaline phosphatase, and GGT typically seen.

Malnutrition and growth failure is common, leading to delayed pubertal development.

Malnutrition may lead to protuberant abdomen, making pts more prone to regurgitation.

Ineffective absorption of dietary lipids, essential fatty acids, fat-soluble vitamins.

Vitamin deficiencies: vitamin K (coagulopathy), vitamin D (rickets), vitamin E/A (retinopathy and neuropathy).

Vitamin K deficiency and liver dysfunction lead to prolonged PT and PTT as well as thrombocytopenia.

Cardiac abnormalities: Pulm vascular stenosis (most common with up 90% pts), tetralogy of Fallot, truncus arteriosus, patent ductus arteriosus, VSDs.

Facial characteristics: Prominent forehead, hypertelorism, saddle or straight nose.

Vertebral anomalies: Butterfly vertebrae (splitting of the bodies sagittally), spina bifida, fusion of adjacent vertebrae.

Ocular abnormalities: Posterior embryotoxon, microcornea, macular dystrophy.

Posterior embryotoxon progresses to glaucoma in 50% of pts.

Neurologic effects: Cerebellar ataxia and peripheral neuropathy usually due to vitamin E and A deficiency. Mental retardation is also associated with the syndrome.

There is a 12–14% risk of spontaneous intracranial bleed.

Renal dysplasia found in 40% of pts.

Halothane should be avoided as it has a myocardial depressant effect, lowering hepatic blood flow.

Perfusion pressure to liver and kidney should be maintained with periop hydration and blood pressure control.