Report of a case with Joubert syndrome and literature review

Objective To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS) . Method The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. Result The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years) . All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension" , 26 cases (81.3%) showed "gasp for breath" , 26 cases (81.3%) showed "unusual motion of eyeball" , 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign" , "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage" , "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Conclusion Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath" , "reduced tension of muscle" , "slow growth" and "unusual motion of eyeball" , and at the same time the patients had the following typical imaging features of brain: "molar tooth sign" , "midline cleavage" and "bat-wing" like fourth ventricle. Key words: Brain disease; Joubert syndrome; Review literature