Joubert sendromu: beş olgu sunumu
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Date
2004-05-14
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Uludağ Üniversitesi
Abstract
Joubert sendromu otozomal resesif geçiş gösteren, hipotoni, ataksi, epizodik hiperpne nöbetleriyle seyreden bir hastalıktır. Klinik olarak anormal göz hareketleri, nistagmus, hiperpne-apne epizodları ve mental-motor gelişme geriliği izlenir. Temel radyolojik bulgular; vermisin tam veya parsiyel yokluğu, hipoplastik serebeller pediküller ve buna bağlı 4. ventrikül deformitesidir. Joubert sendromunda pons ve inferior kollikulus arasındaki beyin sapı bölgesinde (istmus) disgenezise bağlı ponto-mezansefalik birleşkede uzama, incelme ve interpediküler fossada derinleşme izlenir. Ayrıca süperior serebeller pediküllerde kalınlaşma ile 4. ventrikülde lobulasyon ve genişlemeye neden olan vermis hipoplazisi görülür. Bu üç bulgu aksiyal MR görüntülerde ‘molar diş’ görünümüne neden olur. Bu yazıda, Joubert sendromlu beş hastanın klinik ve radyolojik bulguları sunulmaktadır.
Joubert syndrome is a rare autosomol recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea- apnea.The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fossa, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign. Our aim was to review the clinical features and the neuroradiological findings in 5 children with clinical diagnosis of Joubert syndrome.
Joubert syndrome is a rare autosomol recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea- apnea.The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fossa, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign. Our aim was to review the clinical features and the neuroradiological findings in 5 children with clinical diagnosis of Joubert syndrome.
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Joubert sendromu, Molar diş görünümü, Vermis hipoplazi, Epizodik hiperpne, Joubert syndrome, Molar tooth sign, Vermian hypoplasia, Episodic hyperpnea
Citation
Saraç, V. vd. (2004). "Joubert sendromu: beş olgu sunumu". Uludağ Üniversitesi Tıp Fakültesi Dergisi, 30(2), 119-122.