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

Arq Neuropsiquiatr. 2019 Jan;77(1):10-18. doi: 10.1590/0004-282X20180153.

Abstract

Aims: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample.

Methods: Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients.

Results: Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. The mean age of onset of symptoms was 2.9 years in HSP-S and 1.6 years in HSP-C (p = 0.023). The disease was more severe in HSP-C. There were no differences in sex, ethnic background, or family history between groups. Intellectual disability was the most frequent finding associated with HSP-C. Peripheral axonal neuropathy was found in three patients. In the HSP-C group, MRI was abnormal in 13 patients. The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the "ear of the lynx sign".

Conclusions: In children with spastic paraplegia, HSP must be considered whenever similar pathologies, mainly diplegic cerebral palsy, are ruled out.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Age Distribution
  • Age of Onset
  • Brazil / epidemiology
  • Child
  • Child, Preschool
  • Corpus Callosum / diagnostic imaging
  • Corpus Callosum / pathology
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Sex Distribution
  • Spastic Paraplegia, Hereditary / diagnostic imaging
  • Spastic Paraplegia, Hereditary / epidemiology*
  • Spastic Paraplegia, Hereditary / pathology*
  • Statistics, Nonparametric
  • Time Factors