Ex vivo High-Resolution Magnetic Resonance Imaging of the Brain in Joubert's Syndrome

Abstract

This study employs ex vivo high-resolution magnetic resonance imaging (MRI) to examine anatomic structures in an intact brain of a child with Joubert's syndrome. Several of the specific hindbrain malformations associated with Joubert's syndrome are well resolved with ex vivo MRI, including the “molar tooth sign,” which arises from enlarged and maloriented superior cerebellar peduncles, hypoplastic vermis, and deepening of the interpeduncular fossa. Superior resolution was achieved compared with that of in vivo MRI and included visualization of the inferior olives. One high-resolution study also showed that the decreased width of the brainstem isthmus is probably caused by failure of superior cerebellar peduncles to cross the midline at that level. The results of this study suggest that high-resolution MRI may be useful in screening the brainstem for malformations that can be studied histologicaly in a much more targeted fashion. (J Child Neurol 2002;17:910—912).

Get full access to this article

View all access options for this article.

References

Joubert M. , Eisenring J-J. , Robb JP , Andermann F. : Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813—825.

Boltshauser E. , Isler W. : Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation, and ataxia, associated with dysplasia of the cerebellar vermis. Neuropediatrics 1977;8:57—66.

Saraiva JM , Baraitser M. : Joubert syndrome: A review. Am J Med Genet 1992;43:726—731.

Maria BL , Hoang Kbn , Tusa RJ , et al: "Joubert syndrome" revisited: Key ocular motor signs with MRI correlation. J Child Neurol 1997;12:423—430.

Altman NR , Naidich TP , Braffman BH : Posterior fossa malformations. AJNR Am J Neuroradiol 1992;13:691—724.

Maria BL , Quisling RG , Rosainz LC , et al: Molar tooth sign in Joubert syndrome. J Child Neurol 1999;14:368—376.

Friede RL , Boltshauser E. : Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome . Dev Med Child Neurol 1978;20:758—763.

Yachnis AT , Rorke LB : Neuropathology of Joubert syndrome. J Child Neurol 1999; 14: 655—659.

Ten-Donkelaar HJ , Hoevenaars F. , Wesselin P. : A case of Joubert syndrome with extensive cerebral malformations. Clin Neuropathol 2000 ;19:85—93.

10.

Quisling RG , Barkovich J. , Maria BL : Magnetic resonance imaging features and classification of CNS malformations in Joubert syndrome . J Child Neurol 1999;14:628—635.

11.

DeArmond SJ , Fusco MM , Dewey MM : Structure of the Human Brain. Oxford University Press, 1989.

12.

Sztriha L. , Al-Gazali LI , Aithala GR , et al: Joubert's syndrome: New cases and review of clinicopathologic correlation. J Child Neurol 1999;20:274—281.