Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.
Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye-movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy-Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart--at least tentatively--as a distinct nosologic entity.
D002524:Cerebellar Ataxia / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D005133:Eye Movements; D005260:Female; D006801:Humans; D006985:Hyperventilation / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008526:Medulla Oblongata / Q000473:pathology; D008636:Mesencephalon / Q000473:pathology; D011149:Pons / Q000473:pathology; D013577:Syndrome