[article]
| Titre : |
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
R. L. FRIEDE, Auteur ; Eugen BOLTSHAUSER, Auteur |
| Année de publication : |
1978 |
| Article en page(s) : |
p.758-763 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 |
in Developmental Medicine & Child Neurology > 20-6 (December 1978) . - p.758-763
[article] Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome [Texte imprimé et/ou numérique] / R. L. FRIEDE, Auteur ; Eugen BOLTSHAUSER, Auteur . - 1978 . - p.758-763. Langues : Anglais ( eng) in Developmental Medicine & Child Neurology > 20-6 (December 1978) . - p.758-763
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 |
|
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome in Developmental Medicine & Child Neurology, 20-6 (December 1978)