Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome

Area of Science:

• Hepatology
• Medical Imaging
• Genetics

Background:

• Persistent conjugated hyperbilirubinemia in children requires thorough differential diagnosis.
• Rotor syndrome is a rare inherited disorder of bilirubin metabolism, often presenting in infancy or childhood.
• Exclusion of other causes of cholestasis is crucial for accurate diagnosis.

Observation:

• A 7-year-old girl presented with persistent conjugated hyperbilirubinemia, with normal liver enzymes and protein synthesis.
• Standard investigations ruled out infectious, autoimmune, drug-induced, hemolytic, and other genetic liver diseases.
• Radionuclide dynamic cholescintigraphy demonstrated poor hepatic radiotracer uptake and significant blood pool retention.

Findings:

• The clinical presentation and imaging findings were highly suggestive of Rotor syndrome.
• Molecular analysis confirmed the diagnosis of Rotor syndrome.
• This case is the first reported pediatric use of cholescintigraphy for Rotor syndrome.

Implications:

• Radionuclide dynamic cholescintigraphy can be a valuable diagnostic tool for Rotor syndrome in pediatric patients.
• Early and accurate diagnosis of Rotor syndrome is essential for appropriate management and genetic counseling.
• This report expands the understanding of cholescintigraphy's utility in diagnosing rare genetic liver conditions in children.