Neuroradiological findings in Alagille syndrome

Br J Radiol. 2022 Jan 1;95(1129):20201241. doi: 10.1259/bjr.20201241. Epub 2021 Oct 5.

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.

Publication types

  • Review

MeSH terms

  • Alagille Syndrome / diagnostic imaging*
  • Brain / abnormalities
  • Cerebral Angiography
  • Cerebral Arteries / abnormalities
  • Cerebral Veins / abnormalities
  • Face / abnormalities
  • Humans
  • Magnetic Resonance Imaging
  • Neuroradiography
  • Skull / abnormalities
  • Spine / abnormalities