Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding
| Autor: | Inga Harting, Joachim Pietz, U. Kotzaeridou, Andrea Poretti, Angelika Seitz, Martin Bendszus, Eugen Boltshauser |
|---|---|
| Přispěvatelé: | University of Zurich, Harting, I |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Tegmentum Mesencephali Molar tooth sign 610 Medicine & health Choristoma Pediatrics Retina Joubert syndrome Cerebellar Diseases Cerebellum Pons Humans Medicine 2741 Radiology Nuclear Medicine and Imaging Abnormalities Multiple Radiology Nuclear Medicine and imaging Eye Abnormalities Imaging Feature business.industry Infant Anatomy Kidney Diseases Cystic medicine.disease Magnetic Resonance Imaging Ciliopathy Heterotopia (medicine) 2728 Neurology (clinical) Cranial Fossa Posterior Interpeduncular fossa 10036 Medical Clinic Child Preschool Female Neurology (clinical) business |
| Zdroj: | AJNR Am J Neuroradiol |
| DOI: | 10.5167/uzh-56188 |
| Popis: | SUMMARY: The so-called molar tooth sign is the radiologic hallmark of JSRD. Joubert syndrome is a rare, most often autosomal-recessive disorder with a characteristic malformation of the midhindbrain. We describe 3 patients with JSRD and the additional MR finding of tissue resembling heterotopia in the interpeduncular fossa, which in one patient was combined with a more extensive intramesencephalic heterotopia. Interpeduncular heterotopia has not been reported previously, either in the context of JSRD or as a separate entity. This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|