Syndrome of Alagille: radiological and sonographic findings A review of 37 cases

Abstract

The objective of this study was to evaluate the association of intrahepatic cholestasis, pulmonary stenosis, and hyperlipemia with osseous and renal abnormalities in Alagille's syndrome. A total of 37 patients (25 males and 12 females) with ages ranging between 8 months and 27 years were included. Clinical records as well as radiological and ultrasonographic studies were reviewed. Chronic cholestasis was observed in all patients. Thirteen had favorable clinical outcome and normal hepatic sonograms. Clinical and sonographic evidence of portal hypertension was found in 13 patients and of cirrhosis in 8 patients. The remaining 3 patients required hepatic transplantation due to severe cholestasis. Hyperlipemia correlated with hepatic malfunction. Pulmonary stenosis and renal hypoplasia were the most frequently associated abnormalities. All patients showed a peculiar facies. Abnormal "butterfly" vertebrae were present in 18 patients and ulnar or phalangeal shortening in 11 patients. Ultrasonography allowed hepatobiliary disease assessment and helped to establish indications for hepatic transplantation. Renal and osseous abnormalities were not specific but in the appropriate clinical setting reinforced the diagnosis.

Alagille syndrome: pathogenesis, diagnosis and management

“…Other axial skeletal features include narrowing of the interpedicular distance in the lumbar spine, pointed anterior process of C1, spina bifida occulta and fusion of adjacent vertebrae, hemivertebrae, and absence of the 12th rib. 23,24 Craniosynostosis has been reported, 25 as well as radioulnar synostosis, 26 and the digits may show shortening of the distal phalanges with fingers that have a fusiform appearance (Figure 3). It is not unusual for ALGS patients to develop metabolic bone disease with osteoporosis and fractures, most likely a consequence of multi-organ involvement, and a sub-optimal nutritional state.…”

Alagille syndrome: Prenatal sonographic findings

“…In a recent review of the clinical history of 37 patients affected with Alagille syndrome, the prevalence of chronic cholestasis was 100%, with 13 patients having portal hypertension and 8 having cirrhosis. 8 Pulmonary stenosis is the second most common anomaly in Alagille syndrome, reported in 85% of cases. The stenosis is predominantly peripheric, but central forms have also been reported, 9 as in our case.…”

Butterfly vertebra: a case report

“…This malformation can be associated with other spinal anomalies, such as lumbosacral transitional vertebrae, spina bifida, diastematomyelia and several congenital syndromes: Allagille syndrome, Jarcho-Levin syndrome, Klippel-Feil syndrome or with gastrointestinal and genitourinary anomalies (2,3).…”

“…Patients with Alagille syndrome present atresia/hypoplasia of the intrahepatic biliary tree, chronic cholestasis, peculiar facies (hypertelorism, sunken eyes, straight nose, pointed chin, abnormal dental implantation), pulmonary stenosis and skeletal abnormalities (butterfly vertebra, phalangeal or ulnar shortening, pelvic abnormalities, osteoporosis) (2).…”