EJMCR |

Case Report

Volume: 1 | Issue: 3 | Published: Jan 01, 1970 | Pages: 122 - 125 | DOI: 10.24911/ejmcr/1/29

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

Authors

Archana Murugan

1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom

Andrew Ashok Mallick

1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom

Laraine Dibble

2. Department of Paediatrics, Torbay Hospital, Lowes Bridge, Torquay, TQ2 7AA, United Kingdom

Mohamed Osman Eltahir Babiker

1. Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8AE, United Kingdom

Publication History

Received: May 26, 2017

Accepted: June 27, 2017

Published: January 01, 1970

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, green

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. 1970; 01 (January 1970): 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. https://ejmcr.com/articles/1521 [Access: November 23, 2024]. doi:10.24911/ejmcr/1/29

AMA (American Medical Association) Style

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. (1970), [cited November 23, 2024]; 01 (January 1970): 122-125. doi:10.24911/ejmcr/1/29

Harvard Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker (1970) Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. EJMCR, 01 (January 1970): 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." 01 (1970), 122-125. doi:10.24911/ejmcr/1/29

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Archana Murugan, Andrew Ashok Mallick, Laraine Dibble, Mohamed Osman Eltahir Babiker (1970) Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report. , 01 (January 1970), 122-125. doi:10.24911/ejmcr/1/29