Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome


Yerdelen D., Koc F., Koc Z.

ACTA NEUROLOGICA BELGICA, vol.109, no.1, pp.49-52, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 109 Issue: 1
  • Publication Date: 2009
  • Journal Name: ACTA NEUROLOGICA BELGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.49-52
  • Çukurova University Affiliated: Yes

Abstract

Joubert syndrome (JS) is an inherited disorder characterized by transient episodic hyperpnea, ataxia, and vermian hypoplasia. Typical imaging findings of JS include hypoplasia or aplasia of the cerebellar vermis, thick and elongated superior cerebellar peduncles and an abnormally deep interpeduncular fossa with 'molar tooth sign'. We present a case of JS associated with deep cerebral sulci and fissures, polymicrogyria, and additional findings of posterior reversible encephalopathy syndrome associated with renal involvement.