[Joubert's syndrome].
In 1969 a new syndrome was described by Joubert et al. It is a very rare syndrome as only about 30 cases have been reported, and none in Yugoslavia. The main clinical characteristics are as ballows. - Disturbed respiratory rhythm alternating periods of hyperapnea and apnea) which tend to disappear as the child grows; - Abnormal eyemovements (jerky, rotatory, pendular); - Mental retardation (usually severe and which deteriorates with the age); and - Ataxia (sometimes also severe). The main neuropathological finding is dysplasia of the vermis cerebelli. Typical CT - findings consist of a very large cisterna magna communicating with the fourth ventricle. The prognosis of the syndrome is poor: half of the patients die within the first three years. Early recognition of the syndrome is important in view of prognosis and genetic counselling. The authors report a first case of Joubert's syndrome in Yuhoslavia, and review the relevant literature on this subject.
Vranjesević
D
D
Djukić
A
A
Sekulić
N
N
D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D015835:Ocular Motility Disorders; D012120:Respiration Disorders; D013577:Syndrome