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Brain Advance Access originally published online on August 9, 2007
Brain 2007 130(9):2258-2266; doi:10.1093/brain/awm188
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© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance

Peter G. Barth1, Charles B. Majoie2, Matthan W.A. Caan2, Marian A.J. Weterman3, Marten Kyllerman4, Leo M.E. Smit5, Richard A. Kaplan6, Richard H. Haas7, Frank Baas3, Jan-Maarten Cobben8 and Bwee Tien Poll-The1

1Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, 2Department of Radiology, Academic Medical Centre, University of Amsterdam, 3Laboratory of Neurogenetics, Academic Medical Centre, University of Amsterdam, 4Department of Paediatrics, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Göteborg, Sweden, 5Department of Pediatric Neurology, Free University Medical Centre, Amsterdam, Netherlands, 6Department of Pediatric Neurology, Kaiser Permanente Hospital, San Diego CA, 7Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla CA, USA and 8Department of Pediatrics, Section of Genetics, Emma Children's Hospital/AMC, University of Amsterdam, Netherlands

Correspondence to: Bwee Tien Poll-The, Department of Pediatric Neurology, Emma Children's Hospital/AMC, P.O. Box 22700 1100DE Amsterdam, Netherlands E-mail: b.t.pollthe{at}amc.uva.nl

Four unrelated children are described with an identical brainstem and cerebellar malformation on MRI. The key findings are: vermal hypoplasia, subtotal absence of middle cerebellar peduncles, flattened ventral pons, vaulted pontine tegmentum, molar tooth aspect of the pontomesencephalic junction and absent inferior olivary prominence. Peripheral hearing impairment is present in all. Variable findings are: horizontal gaze palsy (1/4), impaired swallowing (2/4), facial palsy (3/4), bilateral sensory trigeminal nerve involvement (1/4), ataxia (2/4). Bony vertebral anomalies are found in 3/4. Additional MR studies in one patient using diffusion tensor imaging (DTI) with colour coding and fibre tracking revealed an ectopic transverse fibre bundle at the site of the pontine tegmentum and complete absence of transverse fibres in the ventral pons. The combined findings indicate an embryonic defect in axonal growth and guidance. Phenotypic analogy to mice with homozygous inactivation of Ntn1 encoding the secreted axonal guidance protein netrin1, or Dcc encoding its receptor Deleted in Colorectal Cancer led us to perform sequence analysis of NTN1 and DCC in all the patients. No pathogenic mutations were found. For the purpose of description the name ‘pontine tegmental cap dysplasia’ (PTCD) is proposed for the present malformation, referring to its most distinguishing feature on routine MRI.

Key Words: pontine hypoplasia; axonal guidance; molar tooth complex; netrin 1; deleted in colorectal cancer

Abbreviations: DTI, diffusion tensor imaging; FISH, fluorescent in situ hybridization; BAER, brainstem auditory evoked response; SSEP, somato sensory evoked potential; PTCD, pontine tegmental cap dysplasia.

Received April 20, 2007. Revised June 22, 2007. Accepted July 18, 2007.


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