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Neuropediatrics 2009; 40(1): 43-46
DOI: 10.1055/s-0029-1224100
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical Spectrum

C. Rauscher 1 , A. Poretti 2 , T. M. Neuhann 3 , R. Forstner 4 , G. Hahn 5 , J. Koch 1 , S. Tinschert 3 , E. Boltshauser 2
  • 1Department of Pediatrics, Paracelsus Medical University of Salzburg, Salzburg, Austria
  • 2Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland
  • 3Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, Germany
  • 4Department of Radiology, Paracelsus Medical University of Salzburg, Salzburg, Austria
  • 5Department of Pediatric Radiology, Children's Hospital, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, Germany
Further Information

Publication History

received 10.12.2008

accepted 17.04.2009

Publication Date:
28 July 2009 (online)

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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.

Key words

pontine hypoplasia - vermis hypoplasia - sensorineural deafness - corneal anesthesia - molar tooth sign

References

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Correspondence

E. Boltshauser

Department of Pediatric Neurology

University Children's Hospital of Zurich

Steinwiesstrasse 75

8032 Zurich

Switzerland

Phone: +41/44/266 73 30

Fax: +41/44/266 71 63

Email: Eugen.Boltshauser@kispi.uzh.ch