Pontine tegmental cap dysplasia: The severe end of the clinical spectrum

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • C. Rauscher - , Paracelsus Private Medical University (Author)
  • A. Poretti - , University of Zurich (Author)
  • T. M. Neuhann - , Hereditary Cancer Syndrome Center (Author)
  • R. Forstner - , Paracelsus Private Medical University (Author)
  • G. Hahn - , Institute and Polyclinic of Diagnostic and Interventional Radiology, University Hospital Carl Gustav Carus Dresden (Author)
  • J. Koch - , Paracelsus Private Medical University (Author)
  • S. Tinschert - , Institute of Clinical Genetics (Author)
  • E. Boltshauser - , University of Zurich (Author)

Abstract

Pontine tegmental cap dysplasia (PTCD) is a newly described hindbrain malformation with distinct neuroradiological findings. Only 12 cases of PTCD have been described so far, all sporadic. We report 2 further patients. Both children presented after birth with significant feeding problems due to impaired mouth opening (previously not reported) and sucking difficulties. Facial, cochlear, and glossopharyngeal nerves were involved resulting in bilateral sensory deafness and a significant swallowing disorder requiring a gastrostomy. In one patient the trigeminal sensory nerve was also involved causing severe bilateral corneal clouding with impaired vision. Both patients showed only minimal developmental progress since birth and had no speech production. Furthermore, they had vertebral and rib anomalies. The patients died at the age of 15 and 32 months, respectively, due to intercurrent infections. The majority of patients reported previously were affected less severely. The presented patients may represent the severe end of the spectrum.

Details

Original languageEnglish
Pages (from-to)43-46
Number of pages4
JournalNeuropediatrics
Volume40
Issue number1
Publication statusPublished - 2009
Peer-reviewedYes

External IDs

PubMed 19639528

Keywords

Keywords

  • corneal anesthesia, molar tooth sign, pontine hypoplasia, sensorineural deafness, vermis hypoplasia