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

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.