Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome
Yerdelen, D.; Koç, F.; Koç, Z.
Acta Neurologica Belgica 109(1): 49-52
2009
ISSN/ISBN: 0300-9009 PMID: 19402575 Document Number: 635224
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 cerebellarpeduncles 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.