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Importance of an echocardiogram in the evaluation of ataxia.
Stokreef, Sarah; Lemos, Mariana; Quintas, Sofia.
Afiliação
  • Stokreef S; Pediatrics, Hospital do Divino Espirito Santo de Ponta Delgada EPE, Ponta Delgada, Portugal sarahstokreef@gmail.com.
  • Lemos M; Pediatric Cardiology, Centro Hospitalar de Lisboa Ocidental EPE Hospital de Santa Cruz, Carnaxide, Portugal.
  • Quintas S; Pediatrics, Hospital de Santa Maria, Lisboa, Portugal.
BMJ Case Rep ; 15(7)2022 Jul 27.
Article em En | MEDLINE | ID: mdl-35896307
We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms. Even though he had no cardiac symptoms and a normal electrocardiography, the echocardiogram revealed severe asymmetric left ventricle hypertrophy consistent with hypertrophic cardiomyopathy. This prompted genetic testing and the diagnosis of Friedreich's ataxia was confirmed.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Ataxia de Friedreich / Transtorno do Espectro Autista Limite: Child / Humans / Male Idioma: En Revista: BMJ Case Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Portugal

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Ataxia de Friedreich / Transtorno do Espectro Autista Limite: Child / Humans / Male Idioma: En Revista: BMJ Case Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Portugal