Clinical Spectrum of Hereditary Spastic Paraplegia in Children A study of 74 cases
Journal Title: Sultan Qaboos University Medical Journal - Year 2013, Vol 13, Issue 3
Abstract
Objectives: Te aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: Tis retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. Te children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. Results: Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecifc white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: Te study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.
Authors and Affiliations
Roshan Koul| Departments of Child Health, Sultan Qaboos University Hospital, Fathiya M. Al-Murshedi| Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman, Faisal M. Al-Azri| Departments of Radiology & Molecular Imaging, Sultan Qaboos University Hospital, Ranjit Mani| Departments of Child Health, Sultan Qaboos University Hospital, Rana A. Abdelrahim| Departments of Child Health, Sultan Qaboos University Hospital, Vivek Koul| Departments of Child Health, Sultan Qaboos University Hospital, Amna M. Alfutaisi| Departments of Child Health, Sultan Qaboos University Hospital
Keywords
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