Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome.
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.
Yerdelen
Deniz
D
Department of Neurology, Baskent University Medical School, Adana,Turkey. yerdelend@gmail.com
Koç
Filiz
F
Koç
Zafer
Z
D000015:Abnormalities, Multiple / Q000473:pathology; D002526:Cerebellar Diseases / Q000150:complications / Q000473:pathology*; D005625:Frontal Lobe / Q000002:abnormalities*; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009069:Movement Disorders / Q000150:complications / Q000473:pathology*; D055815:Young Adult