Angiopathy and Stroke Associated with Homocystinuria in Childhood.
Vasc Endovascular Surg
; 57(4): 417-419, 2023 May.
Article
em En
| MEDLINE
| ID: mdl-36495244
ABSTRACT
A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tromboembolia
/
Trombose
/
Acidente Vascular Cerebral
/
Homocistinúria
Tipo de estudo:
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Vasc Endovascular Surg
Assunto da revista:
ANGIOLOGIA
/
CARDIOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Brasil