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Published in: Pediatric Radiology 8/2005

01-08-2005 | Case Report

Pontomedullary disconnection: fetal and neonatal considerations

Authors: Emma McCann, David Pilling, Markus Hesseling, Devender Roberts, Nim Subhedar, Elizabeth Sweeney

Published in: Pediatric Radiology | Issue 8/2005

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Abstract

The cerebellar and pontocerebellar hypoplasias present a unique challenge when detected in the developing fetus. A diverse aetiology and prognosis make counselling of these families difficult. Advances in fetal imaging allow for more accurate diagnosis and counselling, but postnatal MRI is still required. A case is presented in which cerebellar hypoplasia was detected at 20 weeks gestation. Later fetal imaging provided further information, but a diagnosis of pontomedullary disconnection was not made until the postnatal MRI scan. The clinical findings and possible causes of such pontocerebellar abnormalities are discussed.
Literature
1.
go back to reference Baraitser M, Winter RM (2003) London neurogenetics database, version 1. London Medical Databases, London Baraitser M, Winter RM (2003) London neurogenetics database, version 1. London Medical Databases, London
2.
go back to reference Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. AJNR 23:1074–1087PubMed Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. AJNR 23:1074–1087PubMed
3.
go back to reference Whitby EH, Paley MN, Sprigg A, et al (2004) Comparison of ultrasound and magnetic resonance imaging in 100 singleton pregnancies with suspected brain abnormalities. Br J Obstet Gynecol 111:784–792 Whitby EH, Paley MN, Sprigg A, et al (2004) Comparison of ultrasound and magnetic resonance imaging in 100 singleton pregnancies with suspected brain abnormalities. Br J Obstet Gynecol 111:784–792
4.
5.
go back to reference Barth P (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411–422CrossRefPubMed Barth P (1993) Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15:411–422CrossRefPubMed
6.
go back to reference Jaeken J (2004) Congenital disorders of glycosylation (CDG): update and new developments. J Inherit Metab Dis 27:423–426 Jaeken J (2004) Congenital disorders of glycosylation (CDG): update and new developments. J Inherit Metab Dis 27:423–426
7.
go back to reference Mamourian AC, Miller G (1994) Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? AJNR 15:1483–1485 Mamourian AC, Miller G (1994) Neonatal pontomedullary disconnection with aplasia or destruction of the lower brain stem: a case of pontoneocerebellar hypoplasia? AJNR 15:1483–1485
8.
go back to reference Wang VY, Zoghbi HY (2001) Genetic regulation of cerebellar development. Nat Rev Neurosci 2:484–491 Wang VY, Zoghbi HY (2001) Genetic regulation of cerebellar development. Nat Rev Neurosci 2:484–491
9.
go back to reference Wurst W, Bally-Cuif L (1999) Neural plate patterning: upstream and downstream of the isthmic organizer. Nat Rev Neurosci 2:99–108 Wurst W, Bally-Cuif L (1999) Neural plate patterning: upstream and downstream of the isthmic organizer. Nat Rev Neurosci 2:99–108
Metadata
Title
Pontomedullary disconnection: fetal and neonatal considerations
Authors
Emma McCann
David Pilling
Markus Hesseling
Devender Roberts
Nim Subhedar
Elizabeth Sweeney
Publication date
01-08-2005
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 8/2005
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-005-1455-1

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