Author information
1Department of Radiology, "Tortorella" Private Hospital, Salerno, Italy.
2Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
3Department of Clinical Medicine and Surgery, University of Naples "Federico II", Naples, Italy.
4Department of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
5Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
Abstract
Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notchpathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.