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Alexandria Journal of Pediatrics. 2004; 18 (1): 103-106
em Inglês | IMEMR | ID: emr-201138

RESUMO

This study was done to evaluate the accuracy of neuroimaging in establishing the diagnosis of Joubert syndrome. Computed tomography [CT] and magnetic resonance imaging [MRI] were performed in seven infants/children with the clinical diagnosis of Joubert syndrome. The clinical diagnoses were based on characteristic clinical features. The CT scans were performed on a single detector helical CT scans and the MRI were performed on I-T and 1.5-T MRI systems. All studies were evaluated for the presence of cerebellar vermin aplasia/hypoplasia, cerebellar hypoplasia, horizontal alignment of the superior cerebellar peduncle, "molar tooth" configuration of the brainstem and "bat wing" appearance of the fourth ventricle. Other neuroimaging abnormalities such as hydrocephalus, dysgenesis of the corpus callosum were also reported. Cerebellar vermin hypoplasia with a midline cleft, horizontal alignment of the superior cerebellar peduncle, "molar tooth" configuration of the brainstem and dilated fourth ventricle with bat wing" appearance were detected in all patients. Cerebellar hemisphere hypoplasia was seen only in 3 cases. Brainstem molar tooth sign, fourth ventricular bat wing sign and the horizontal orientation of the superior cerebellar peduncles are characteristic findings Joubert syndrome

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