Neuroradiological findings in Alagille syndrome

Author:

D'Amico Alessandra1,Perillo Teresa2,Cuocolo Renato3,Ugga Lorenzo2,Di Dato Fabiola4,Caranci Ferdinando5,Iorio Raffaele4

Affiliation:

1. Department of Radiology, “Tortorella” Private Hospital, Salerno, Italy

2. Department of Advanced Biomedical Sciences, University of Naples “Federico II”, Naples, Italy

3. Department of Clinical Medicine and Surgery, University of Naples "Federico II", Naples, Italy

4. Department of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples, Italy

5. Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy

Abstract

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, 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.

Publisher

British Institute of Radiology

Subject

Radiology Nuclear Medicine and imaging,General Medicine

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