Literature DB >> 25220782

Pontine tegmental cap dysplasia: report of two new cases from Kuwait.

Marina Jovanovic1, Mohammed Zakkhariah Chinnathambi2, Ivana Markovic3, Maged Elshahat Abdrabon Eilewa4, Sameera Abdulla Sadeq5, Allie Moosa6.   

Abstract

We describe two patients (a Filipino boy aged 2.7 years and a Kuwaiti girl aged 4.8 Years) with clinical and MRI findings consistent with the diagnosis of pontine tegmental cap dysplasia (PTCD) and compare them with 23 other cases reported in the literature. Both presented with feeding problems (VII nerve), sensori-neural deafness (VIII nerve) and hypotonia from birth and later developed corneal opacities due to loss of corneal sensation (V nerve). They have severe psychomotor developmental delay. The MRI of their brain showed a flattened ventral pons, vaulted "cap"- like structure protruding into 4th ventricle and a "molar tooth" sign. One of our patients also had Tetralogy of Fallot (TOF) successfully corrected. The other had no extracranial manifestations. The findings in our patients are similar to those reported except for the occurrence of TOF which has not been reported before in association with PTCD.
Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Cranial nerves; Deafness; Feeding difficulty; PTCD; Pontine tegmental cap dysplasia

Mesh:

Year:  2014        PMID: 25220782     DOI: 10.1016/j.ejpn.2014.08.005

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  2 in total

1.  A rare cause of arterial hypertension in a child with developmental delay: Answers.

Authors:  Cemile Pehlivanoglu; Hulya Maras Genc; Sevinc Kalın
Journal:  Pediatr Nephrol       Date:  2021-10-19       Impact factor: 3.714

2.  Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.

Authors:  Jason N Nixon; Jennifer C Dempsey; Dan Doherty; Gisele E Ishak
Journal:  Neuroradiology       Date:  2015-10-12       Impact factor: 2.804

  2 in total

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