ISSN - 0973-0958
https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
   
 
Microphthalmia, Microcornea, Low set ears
Microphthalmia, Microcornea, Low set ears 08/01/2013 https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
Dr Ira Shah.
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Cite this article  Copy Citation
Shah I. Microphthalmia, Microcornea, Low set ears. Pediatr Oncall J. 2013;10: 30. doi: 10.7199/ped.oncall.2013.14

Address for Correspondence
Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056

Clinical Problem :
A 4 year old girl presented with recurrent seizures since 1 year of age which are generalized tonic clonic convulsions with clenching occurring once in 2-3 months. Mother had appendicitis in first trimester of pregnancy. A milestone in form of speech is delayed. The child is a full term normal delivery with birth weight of 2.2 kg. On examination, the child has microphthalmia, microcornea, low set ears, microcephaly {head circumference = 44 cm}. There was an ejection systolic-murmur in pulmonary area. Other systems are normal.
 
Question :
What is the possible diagnosis_?
 
Expert Opinion :
This child has presented with recurrent seizures. In addition, the child has dysmorphic features such as microphthalmia, microcornea and microcephaly suggestive of either an intrauterine infection or genetic disorder. The commonest IU infection in this child would be congenital rubella and seizures could be due to brain calcifications, malformations. In this child, urine for rubella was positive suggestive of diagnosis of Congenital rubella. Echocardiography was normal. ECG showed sinus bradycardia.
 
Funding:  None  
 
Conflict of Interest: None
 
DOI No. :  https://doi.org/10.7199/ped.oncall.2013.14
 
Cite this article as :
Shah I. Microphthalmia, Microcornea, Low set ears. Pediatr Oncall J. 2013;10: 30. doi: 10.7199/ped.oncall.2013.14
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0