Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Abstract

abstract:Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: 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. 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. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases. Keywords

Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population

“…Although previously described in a series including mainly adult patients 22 , reduction of the volume of the spinal cord was not present in any of our patients, or in the pediatric patients studied by Koul et al 17 . However, it should be stated that although the radiology evaluation was carried out by an experienced neuroradiologist, volumetric analysis according to the criteria described by Hedera et al 22 was not performed.…”

“…In our series, this association was present in 87% of the patients. In the series by Koul et al 17 , this number was lower (40%). This discrepancy may be explained by the lack of standardized criteria for intellectual disability assessment, and by the fact that, in this series, 60% of the children were below the age of one year.…”

“…The correlation among their and our findings is shown in Table 4. In the two series by Koul et al 17 and Kumar et al 18 , the frequency of HSP-C is somewhat higher. The high frequency of familial cases in the series by Koul et al may be due to the high rate of parent consanguinity in their cohort.…”

“…There are only a few studies devoted to pediatric HSP (Table 4). Two of them analyzed only the simple form of HSP 7,16 , and the other two studied both HSP-S and HSP-C 17,18 .…”

Reply

“…This objective is explicit in the title: Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population 2 .How does one make this diagnosis in patients in whom a genetic study cannot be performed? Moreover, it is known that in one-third to half of the patients, the genetic results are negative 3,4,5 . Should we exclude the diagnosis?…”