Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.
- 1 October 2001
- journal article
- other
- Published by SAGE Publications in Journal of Child Neurology
- Vol. 16 (10), 751-758
- https://doi.org/10.1177/088307380101601008
Abstract
Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus—the junction of the pons and mesencephalon. Interestingly, 1 in 10 patients with Joubert syndrome has abnormal cerebrospinal fluid collections misdiagnosed as Dandy-Walker variants. Because of important differences in patient management, genetic counseling, and prognosis between these conditions, we undertook a study to determine if the brainstem isthmus is normal in Dandy-Walker syndrome. Using standard landmarks, we evaluated development of the isthmus in normal subjects and in subjects with Joubert syndrome and Dandy-Walker syndrome. Four of five brainstem measures increased with age in normal subjects. In subjects with Joubert syndrome, the depth and length of the interpeduncular fossa were increased, and the width of the isthmus was decreased. In subjects with Dandy-Walker syndrome, the width of the brainstem isthmus was normal, and the molar tooth sign was absent. Although the pons can be hypoplastic in Dandy-Walker syndrome, we conclude that the pontomesencephalic junction is normal. Thus, the molar tooth sign can effectively distinguish between Joubert and Dandy-Walker syndromes. Genetic heterogeneity or epigenetic factors may account for abnormal cerebrospinal fluid collections in some cases of Joubert syndrome. (J Child Neurol 2001;16:751-758).Keywords
This publication has 24 references indexed in Scilit:
- Follow-Up in Children with Joubert SyndromeNeuropediatrics, 1997
- Posterior fossa cystic lesions — magnetic resonance imaging manifestationsBrain & Development, 1995
- Relationship between Cerebellar Appearance and Function in Children with Dandy-Walker SyndromePediatric Neurosurgery, 1995
- Cystic retrocerebellar malformations: Unification of the Dandy-Walker complex and the Blake's pouch cystPediatric Radiology, 1993
- Joubert syndrome: A reviewAmerican Journal of Medical Genetics, 1992
- Current prognosis in overt neonatal hydrocephalusJournal of Neurosurgery, 1982
- JOUBERT SYNDROME: CLINICAL AND POLYGRAPHIC OBSERVATIONS IN A FURTHER CASENeuropediatrics, 1981
- Joubert Syndrome: a Case Confirmed by Computerized TomographyDevelopmental Medicine and Child Neurology, 1980
- Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert SyndromeDevelopmental Medicine and Child Neurology, 1978
- Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar VermisNeuropediatrics, 1977