Abstract
The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. This 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. The 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. 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. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.
Highlights
- This study examined the largest series of hereditary spastic paraplegia (HSP) in children in Oman. - An autosomal recessive pattern of inheritance was seen in all cases in the study. - Early onset of symptoms was seen in the majority of patients (~60%). - Microcephaly was often seen in the children in this study. - Magnetic resonance imaging showed white matter abnormalities in 24.3% of cases. - A differential diagnosis of HSP should be considered if the history and clinical features do not suggest cerebral palsy
Hereditary spastic paraplegia (HSP) is defined as a neurological disorder characterised by progressive symmetrical pyramidal tract dysfunction with onset in the lower limbs resulting in weakness, mainly of the lower extremities.[1]
Autosomal recessive complicated HSP is the main form of HSP seen in children in the Arabian Peninsula, with an approximate incidence of 1 in 11,000 live births
Summary
- This study examined the largest series of hereditary spastic paraplegia (HSP) in children in Oman. - An autosomal recessive pattern of inheritance was seen in all cases in the study. - Early onset of symptoms was seen in the majority of patients (~60%). - Microcephaly was often seen in the children in this study. - Magnetic resonance imaging showed white matter abnormalities in 24.3% of cases. - A differential diagnosis of HSP should be considered if the history and clinical features do not suggest cerebral palsy. Hereditary spastic paraplegia (HSP) is defined as a neurological disorder characterised by progressive symmetrical pyramidal tract dysfunction with onset in the lower limbs resulting in weakness, mainly of the lower extremities.[1] The onset of the disease can be from early childhood up to 70 years of age.[2] Childhoodonset HSP needs to be differentiated from more common conditions like cerebral palsy and other mimicking neurodegenerative disorders that affect the white matter of the brain.[3]. The autosomal dominant variety is the most common type, reported in 70–80% of all cases of HSP seen so far.[5,8] Previous data from Oman were limited to two reports of two large families involving 16 children with novel genetic mutations.[9,10] The present study describes clinical features of HSP in 74 children, including the previous study of 16 children in which a genetic work-up has already been done
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