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

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.