Joubert Syndrome-Related Disorder: Report of Six Cases and Literature Review

Abstract

Background: The prevalence of Joubert syndrome in most Arab countries is unknown, yet it has an estimated prevalence of 1/5,000 live births in the United Arab Emirates. Geographic areas where consanguinity represent high percentage (40-60%) of marriages, similar prevalence might be expected.Findings: In Case 1 (Figure 2), we found the neuroimaging features of classic JS in the form of MTS and mild vermian hypoplasia. In Case 2, (Figure 3) the imaging features included the appearance of persistent Blake’s pouch cyst. In Case 3 (Figure 4), we found the additional imaging features of Dandy Walker malformation. Case 4 (Figure 5) revealed classic JS features of the posterior fossa but with partial dysgenesis of the corpus callosum. In Case 5 (Figure 6), we found the unidentified JSRD that would help in recognizing the prognosis and clinical outcome. Case 6 (Figure 7) demonstrated the associated small posterior fossa, dysplastic superior vermis, occipital meninigocele, platybasia and compression of the cervicomedullary junction.Conclusion: First, these cases emphasize the importance of raising the clinical suspicion in this diagnosis in newborns presenting with abnormal respiration. Second, it is essential for the radiologist to look for other posterior fossa anomalies in case of finding an entity before jumping to a certain or specific syndrome. Additionally, follow-up cases of hydrocephalus should be thoroughly searched again for congenital malformations.Limitations: Our main limitation is the lack of genetic study of the presented cases due to outsourcing. That could help better classification of the Joubert syndrome in children.