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BMJ Case Rep ; 17(2)2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38359959

RESUMO

Stiff-person syndrome (SPS) is a rare neurological condition that frequently affects adults, with the neurologist diagnosing only one or two cases during his or her career. Reports of paediatric SPS are exceedingly rare, with less than 20 cases described in the literature.The patient presented was initially diagnosed with a functional movement disorder then a genetic dystonia, with a poor response to treatment trials and negative genetic testing. Consideration of Wilson's disease was refuted with non-supportive investigations and assessments.We aim to present the long road to diagnosing our first paediatric patient with SPS, who presented in middle childhood.


Assuntos
Distonia , Distúrbios Distônicos , Degeneração Hepatolenticular , Rigidez Muscular Espasmódica , Masculino , Adulto , Feminino , Humanos , Criança , Rigidez Muscular Espasmódica/diagnóstico , Distonia/diagnóstico , Distonia/etiologia , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/etiologia
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