INTRODUCTION: Alagille syndrome is a dominantly inherited disorder affecting the liver (arteriohepatic dysplasia), the heart, the eyes and the face. Butterfly vertebrae in the thoracic and lumbar spine are detectable in 50 to 80 per cent of the patients; most of them remain asymptomatic. The management of progressive cholestasis in early childhood is the main aspect of therapy. CASE: A 14-year-old female patient with Alagille syndrome was referred to our hospital for examination of a right thoracic scoliosis. Magnetic resonance imaging verified butterfly deformity in thoracic vertebrae 2, 4, 6, 7, 8, 10, 11, and lumbar vertebra 3. Asymmetries of thoracic vertebrae 6, 8 and especially, 7 were responsible for the scoliosis. CONCLUSION: The highly variable expression of these typical characteristics in mildly affected patients can cause some difficulties. When diagnosing a scoliosis with asymmetric butterfly vertebrae, an Alagille syndrome should be considered, especially if the patient shows a liver dysfunction.
INTRODUCTION:Alagille syndrome is a dominantly inherited disorder affecting the liver (arteriohepatic dysplasia), the heart, the eyes and the face. Butterfly vertebrae in the thoracic and lumbar spine are detectable in 50 to 80 per cent of the patients; most of them remain asymptomatic. The management of progressive cholestasis in early childhood is the main aspect of therapy. CASE: A 14-year-old female patient with Alagille syndrome was referred to our hospital for examination of a right thoracic scoliosis. Magnetic resonance imaging verified butterfly deformity in thoracic vertebrae 2, 4, 6, 7, 8, 10, 11, and lumbar vertebra 3. Asymmetries of thoracic vertebrae 6, 8 and especially, 7 were responsible for the scoliosis. CONCLUSION: The highly variable expression of these typical characteristics in mildly affected patients can cause some difficulties. When diagnosing a scoliosis with asymmetric butterfly vertebrae, an Alagille syndrome should be considered, especially if the patient shows a liver dysfunction.