EJMCR. 2017; 1(September 2017): 122-125

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

Authors: 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.

Keywords:
Corpus callosum, hereditary spastic paraparesis, SPG11 gene, case report


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


Authors
Archana Murugan
1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom
PubMed articlesGoogle scholar articles

Andrew Ashok Mallick
1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom
PubMed articlesGoogle scholar articles

Laraine Dibble
2. Department of Paediatrics, Torbay Hospital, Lowes Bridge, Torquay, TQ2 7AA, United Kingdom
PubMed articlesGoogle scholar articles

Mohamed Osman Eltahir Babiker
1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom
PubMed articlesGoogle scholar articles


Correspondence to:
Archana Murugan. Archana Murugan, 1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom; archanamurugan@gmail.com

Publication history
Received 26 May 2017
Accepted 27 Jun 2017
Published in print 22 Sep 2017

How to cite this article?

Export to EndNote Export to refMan

Pubmed Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. EJMCR. 2017; 1(September 2017): 122-125. doi:10.24911/ejmcr/1/29


Web Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. http://www.ejmcr.com/?mno=266959 [Access: November 21, 2018]. doi:10.24911/ejmcr/1/29


AMA (American Medical Association) Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. EJMCR. 2017; 1(September 2017): 122-125. doi:10.24911/ejmcr/1/29


Vancouver/ICMJE Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. EJMCR. (2017), [cited November 21, 2018]; 1(September 2017): 122-125. doi:10.24911/ejmcr/1/29


Harvard Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker (2017) Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. EJMCR, 1 (September 2017), 122-125. doi:10.24911/ejmcr/1/29


Turabian Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. 2017. Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. European Journal of Medical Case Reports, 1 (September 2017), 122-125. doi:10.24911/ejmcr/1/29


Chicago Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. "Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report." European Journal of Medical Case Reports 1 (2017), 122-125. doi:10.24911/ejmcr/1/29


MLA (The Modern Language Association) Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker. "Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report." European Journal of Medical Case Reports 1.September 2017 (2017), 122-125. Print. doi:10.24911/ejmcr/1/29


APA (American Psychological Association) Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker (2017) Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. European Journal of Medical Case Reports, 1 (September 2017), 122-125. doi:10.24911/ejmcr/1/29


Share this article

Click the icon of the social media platform on which you would like to share this article.

Article Statistics

Viewed: 4779
Downloaded: 375
Cited: 0

Request permissions

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

Copyright © 2018 Discover Publishing Group. All Rights Reserved.