| Literature DB >> 25220782 |
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.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