European Journal of Medical Case Reports will consider any original case report that adds new information to existing general medical knowledge, and original research relating to case reports in all medical disciplines.

(EJMCR is a not-for-profit journal. We follow ethical publishing practices as recommended by COPE. We don't have any fast-track publication service upon extra payment.) 


 



« Previous Article
Next Article »

Case Report Copyright Protected


Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker.

Abstract
Background: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition that results in gradual deterioration of lower limb function due to spastic weakness. It can manifest at any age and predominantly presents as gait abnormalities especially tip toe walking. They are classified as simple or complicated based on additional clinical/neurological symptoms apart from lower limb involvement. These are genetically heterogeneous disorders with mutations discovered in more than 50 genes. The association of thin corpus callosum (TCC) along with clinical features of spastic paraplegia is particularly described in mutations of SPG11 gene.
Case presentation: We describe two unrelated cases of childhood onset HSP-TCC associated with mutations in exon16 and exon 28: exon 30 respectively. Both these patients also have associated learning difficulties.
Conclusion: The constellation of clinical symptoms and MRI findings led to targeted genetic testing and subsequent identification of their diagnosis.

Key words: Corpus callosum, hereditary spastic paraparesis, SPG11 gene, case report


 



Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@ejmcr.com.

Copyright © 2017 Discover Publishing Group. All Rights Reserved.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.




ISSN : 2520-4998