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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2019; 77(01): 10-18
DOI: 10.1590/0004-282X20180153
Article

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

Paraplegia espástica hereditária: estudo clínico e epidemiológico em uma população pediátrica brasileira
Roberta Paiva Magalhães Ortega 
1   Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brasil;
,
Sérgio Rosemberg
1   Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brasil;
2   Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo SP, Brasil.
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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.

RESUMO

Objetivo: Investigar paraplegia espástica hereditária (PEH) em uma amostra brasileira de pacientes pediátricos.

Métodos: Foram colhidos dados clínicos, epidemiológicos, radiológicos e laboratoriais de 35 pacientes.

Resultados: Doze pacientes foram classificados como PEH simples (PEH-S), e 23 como PEH complicada (PEH-C). A média de idade de início dos sintomas foi de 2,9 anos na PEH-S e 1,6 anos na PEH-C (p = 0,023). A doença foi mais grave na PEH-C. Não houve diferença de sexo, etnia e histórico familial entre os dois grupos. Deficiência intelectual foi a associação clínica mais frequente na PEH-C. Neuropatia periférica axonal foi encontrada em três pacientes. A RM foi normal em 13 casos de PEH-C. Anormalidades de RM incluiram alterações inespecíficas da substância branca, atrofia de cerebelo, afilamento de corpo caloso e o “sinal da orelha de lince”.

Conclusões: PEH deve ser considerada em crianças com paraparesia espástica sempre que descartadas condições patológicas similares, principalmente paralisia cerebral.

Keywords:

Spastic paraplegia - hereditary - cerebral palsy - heredodegenerative disorders, nervous system

Palavras-chave:

Paraplegia espástica hereditária - paralisia cerebral - transtornos heredodegenerativos do sistema nervoso

The study was carried out at the Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo/SP - Brasil.




Publikationsverlauf

Eingereicht: 05. April 2018

Angenommen: 15. Oktober 2018

Artikel online veröffentlicht:
21. August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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