Short Communication 43 Rauscher C et al. Pontine Tegmental Cap … Neuropediatrics 2009; 40: 43–46 received 10.12.2008 accepted 17.04.2009 Bibliography DOI 10.1055/s-0029-1224100 Neuropediatrics 2009; 40: 43–46 © Georg Thieme Verlag KG Stuttgart · New York ISSN 0174-304X Correspondence E. Boltshauser Department of Pediatric Neurology University Children’s Hospital of Zurich Steinwiesstrasse 75 8032 Zurich Switzerland Tel.: + 41/44/266 73 30 Fax: + 41/44/266 71 63 Eugen.Boltshauser@kispi.uzh. ch Key words ● ▶ pontine hypoplasia ● ▶ vermis hypoplasia ● ▶ sensorineural deafness ● ▶ corneal anesthesia ● ▶ molar tooth sign Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical Spectrum lems due to impaired mouth opening and sucking difficulties were recognized after birth and nasogastric tube feeding was started. Electromyo- graphy of M. masseter was not performed. The limitation of mouth opening was not considered to result from trismus. Neurological examination showed bilateral facial nerve palsy, but complete eye closure could be achieved. Corneal reflexes were absent, ocular movements unrestricted, and pupillary reflexes symmetrical. Oral inspec- tion including tongue movements was normal, sucking reflex weak, and truncal musculature hypotonic. At the age of 3 months she suffered from bilateral purulent conjunctivitis with sub- sequent marked corneal clouding ( ● ▶ Fig. 1). To this age she showed poor developmental progress. The oculodigital sign was observed frequently. Because of hearing impairment (otoacoustic emissions and brainstem auditory responses could not be evoked on repeated examinations), bilateral hearing aids were supplied. At the age of 12 months, she opened her eyes spontaneously, followed a light source, and showed normal ver- tical and horizontal gaze, but still demonstrated the oculodigital sign frequently. Additionally, positional plagiocephaly, thoracic levoscoliosis and lumbar dextroscoliosis, poor head control, Introduction & Barth et al. described recently four unrelated children with a new complex hindbrain malfor- mation named “pontine tegmental cap dysplasia” (PTCD) [1]. All these patients showed hearing impairment. Other neurological findings were horizontal gaze palsy, impaired swallowing, facial palsy, bilateral sensory trigeminal nerve involve- ment, and ataxia. Extracranial malformations included bony vertebral anomalies. Six additional patients were recently added by Jissendi-Tchofo et al [3]. We report two additional cases extending the spectrum of this malformation, presenting clini- cal findings not yet described; and we point out the potential severe consequences. Case Report & Patient 1 The girl was born at 38 + 5 weeks gestation by spontaneous vaginal delivery as the third child of healthy, unrelated Austrian parents. The family history was unremarkable, pregnancy and deliv- ery were uneventful. Significant feeding prob- Authors 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 Affiliations Affiliation addresses are listed at the end of the article 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 pre- sented after birth with significant feeding prob- lems 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 requir- ing 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 develop- mental 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 intercur- rent infections. The majority of patients reported previously were affected less severely. The pre- sented patients may represent the severe end of the spectrum.