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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • C. Rauscher - , Paracelsus Medizinischen Privatuniversität (Autor:in)
  • A. Poretti - , Universität Zürich (Autor:in)
  • T. M. Neuhann - , Institut für Klinische Genetik (Autor:in)
  • R. Forstner - , Paracelsus Medizinischen Privatuniversität (Autor:in)
  • G. Hahn - , Institut und Poliklinik für diagnostische und interventionelle Radiologie, Universitätsklinikum Carl Gustav Carus Dresden (Autor:in)
  • J. Koch - , Paracelsus Medizinischen Privatuniversität (Autor:in)
  • S. Tinschert - , Institut für Klinische Genetik (Autor:in)
  • E. Boltshauser - , Universität Zürich (Autor:in)

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

OriginalspracheEnglisch
Seiten (von - bis)43-46
Seitenumfang4
FachzeitschriftNeuropediatrics
Jahrgang40
Ausgabenummer1
PublikationsstatusVeröffentlicht - 2009
Peer-Review-StatusJa

Externe IDs

PubMed 19639528

Schlagworte

Schlagwörter

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