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Background: Published case series have described central hepatic macroregenerative nodules or masses as a common feature of Alagille syndrome. Our experience suggests this regenerative pattern can be seen more generally in cholangiopathic disorders.Objective: To define the frequency of central regenerative tissue in Alagille syndrome and other cholangiopathic disorders and to describe the typical appearance of such regenerative tissue.Materials and Methods: We conducted a retrospective study of CT and MR imaging performed in children and young adults with cholangiopathic disorders between January 2000 and June 2016. Two pediatric radiologists reviewed images in consensus for the presence and features of macroregenerative tissue. Tissue histopathology, when available, was retrieved from the medical record.Results: Of 226 patients with cholangiopathic disorders, 23% (52/226) had macroregenerative tissue, and this tissue was central in 96% (50/52). Tissue was well defined and mass-like in 38% (20/52). Regenerative tissue was most common among the subset of patients with Langerhans cell histiocytosis with hepatic involvement (71%, 5/7) and was identified in 43% (16/37) of patients with Alagille syndrome. Regenerative tissue was iso- to hyperintense on T1-weighted MR sequences in 96% (50/52) of cases and hypointense on T2-weighted MR imaging in 94% (48/51). Arterial phase hyperenhancement was present in only five patients (12% of 43), none of whom showed portal venous phase washout. Histopathology was available for 20 cases, all showing benign regenerative tissue.Conclusion: Central mass-like regeneration appears to be a common regenerative pattern in cholangiopathic disorders and should not be mistaken for malignancy. [ABSTRACT FROM AUTHOR]

Background: Alagille syndrome is a pediatric multisystem disease with increased prevalence of cerebrovascular disease. The spectrum of cerebrovascular disease in Alagille syndrome includes cerebral aneurysms, moyamoya arteriopathy and dolichoectasia. The prevalence of cerebrovascular disease in Alagille syndrome varies widely in the literature.Objective: To determine the prevalence of cerebrovascular disease in our institution's Alagille patient population by employing a full primary review of all available neuroimaging.Materials and Methods: An institutional review board-approved retrospective review of all Alagille syndrome patients seen at a tertiary care children's hospital from January 2000 to January 2014 was performed. All neuroimaging studies were reviewed for arterial or venous abnormalities. The prevalence of arterial and venous abnormalities was calculated and clinical outcomes were determined.Results: Fifty-two patients with Alagille syndrome ranging in age from 11 months to 27 years were studied. Nineteen (37%) had dedicated vascular neuroimaging. Six (32%) had cerebral arterial disease, 4 with dolichoectasia, 3 with aneurysm(s) and 2 with moyamoya arteriopathy. Three of the four patients with dolichoectasia had associated aneurysm(s). Venous anomalies were present in 4 (21%) patients. One patient with moyamoya arteriopathy underwent revascularization procedures. No deaths were attributable to cerebrovascular disease.Conclusion: Cerebral vasculopathy is an important feature of Alagille syndrome and includes dolichoectasia, cerebral aneurysms and moyamoya arteriopathy. The high prevalence identified in our study suggests noninvasive vascular neuroimaging screening should be performed in this patient population. In addition to cerebral arterial abnormalities, alterations of venous development may be a feature of Alagille syndrome. [ABSTRACT FROM AUTHOR]

Background: Children with Alagille syndrome undergo surveillance radiologic examinations as they are at risk for developing cirrhosis and hepatocellular carcinoma. There is limited literature on the imaging of liver masses in Alagille syndrome. We report the ultrasound (US) and magnetic resonance imaging (MRI) appearances of incidental benign giant hepatic regenerative nodules in this population.Objective: To describe the imaging findings of giant regenerative nodules in patients with Alagille syndrome.Materials and Methods: A retrospective search of the hospital database was performed to find all cases of hepatic masses in patients with Alagille syndrome during a 10-year period. Imaging, clinical charts, laboratory data and available pathology were reviewed and analyzed and summarized for each patient.Results: Twenty of 45 patients with confirmed Alagille syndrome had imaging studies. Of those, we identified six with giant focal liver masses. All six patients had large central hepatic masses that were remarkably similar on US and MRI, in addition to having features of cirrhosis. In each case, the mass was located in hepatic segment VIII and imaging showed the mass splaying the main portal venous branches at the hepatic hilum, as well as smaller portal and hepatic venous branches coursing through them. On MRI, signal intensity of the mass was isointense to liver on T1-weighted sequences in four of six patients, but hyperintense on T1 in two of six patients. In all six cases, the mass was hypointense on T2- weighted sequences. The mass post-contrast was isointense to adjacent liver in all phases in five the cases. Five out of six patients had pathological correlation demonstrating preserved ductal architecture confirming the final diagnosis of a regenerative nodule.Conclusion: Giant hepatic regenerative nodules with characteristic US and MR features can occur in patients with Alagille syndrome with underlying cirrhosis. Recognizing these lesions as benign giant hepatic regenerative nodules should, thereby, mitigate any need for intervention. [ABSTRACT FROM AUTHOR]

Background: Alagille syndrome is a rare disorder commonly associated with pulmonary artery stenosis. Studies exist discussing the cardiovascular sequela but no consistent phenotype, or pattern of pulmonary artery stenosis, has been described.Objective: The objective of this study was to characterize the distribution and severity of pulmonary artery stenosis in patients with Alagille syndrome based on computed tomography angiography.Materials and Methods: A retrospective chart review identified patients with Alagille syndrome who had undergone CT angiography. Pulmonary trunk (MPA), left main pulmonary artery (LPA) and right main pulmonary artery (RPA) diameters in Alagille patients were compared with those from matched control subjects. Stenoses at lobar and segmental pulmonary arteries were categorized as: Grade 1 (<33% stenosis), Grade 2 (33-66% stenosis) or Grade 3 (>66% stenosis). Involvement among the different lung regions was then compared.Results: Fifteen patients ages 6 months to 17 years were identified; one had surgical augmentation of the central pulmonary arteries and was excluded from the central (main, right and left) pulmonary artery analysis. The proximal LPA and RPA, but not the MPA, were significantly smaller than those of the control subjects (P<0.01). The proximal LPA was significantly smaller than the proximal RPA (P<0.01) in the Alagille group (0.55 LPA:RPA ratio). Within the Alagille group, 75% of the lobar and segmental branches showed mild or no stenoses (Grade 1), 17% showed moderate stenosis (Grade 2) and 8% showed severe stenosis (Grade 3). While not statistically significant, the right lung demonstrated a greater percentage of Grades 2 and 3 stenoses (28%, right vs. 20% left, P=0.1). The right middle and lingula lobes of both lungs showed more Grade 2 and 3 stenoses (33% upper/middle vs. 18% lower, P<0.01).Conclusion: We describe a common pattern pulmonary artery stenosis in Alagille patients consisting of severe proximal LPA stenosis, heavy involvement of the lobar and segmental branches (more often right than left), and a greater involvement of the upper lobes. Knowledge of this phenotypic pattern can help in the diagnosis of Alagille syndrome in patients presenting with pulmonary artery stenosis. [ABSTRACT FROM AUTHOR]

Background: Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective: To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods: Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results: Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (P<0.0005). In the patients with Alagille syndrome, incomplete fusion of the anterior arch, most frequently at the D6–9 level, accounted for 123 of 126 anomalies. Multiple vertebral anomalies occurred in 48% of patients with Alagille syndrome (mean 2.5 anomalies). Vertebral anomalies were misreported in 54% of cases of Alagille syndrome. Conclusions: Vertebral anomalies are significantly more common in Alagille syndrome than in chronic cholestasis of other causes and are frequently overlooked. Reporting should be undertaken by a radiologist familiar with the appearance and location of these vertebral anomalies. [ABSTRACT FROM AUTHOR]

In Alagille syndrome, routine follow-up imaging of the liver plays an important role in detecting early parenchymal changes and to evaluate portal hypertension. Modern contrast-enhanced imaging methods not only allow early detection of focal liver lesions, but also enable further characterization of their nature and guide biopsy procedures. We present the US and MR imaging findings of hepatocellular carcinoma and a regenerating nodule in a 3-year-old child with Alagille syndrome. [ABSTRACT FROM AUTHOR]

We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. [ABSTRACT FROM AUTHOR]