Septo-optic dysplasia: recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice.

Septo-optic dysplasia (SOD), an unusual clinical syndrome associated with intrahepatic cholestasis, is a cause of false-positive hepatobiliary scintigraphy in patients with neonatal jaundice. Use of the criterion of absence of [99mTc]IDA activity in the gastrointestinal tract by 24 hr, as well as application of the more recently used criterion of normal hepatic extraction, failed to differentiate patients with biliary atresia from those with SOD. Septo-optic dysplasia has clinical and scintigraphic features unique from other causes of conjugated hyperbilirubinemia. Identification of the patients with SOD, in a group of 44 infants being evaluated for neonatal jaundice, improved the overall specificity of hepatobiliary scintigraphy in neonatal jaundice from 65% to 79% and accuracy in identification of patients with biliary atresia from 82% to 90%. Recognition of SOD is important to prevent unnecessary surgical exploration of these patients.