Angiopathy and Stroke Associated with Homocystinuria in Childhood.
Zeferino DemartiniPedro Juan Furtado NevesAndre Luis Santos do CarmoSergio AntoniukDanielle Caldas BufaraAna Clarice Bartosievicz PrestesLiara Bohnert Rodrigues MdLaura Ziemba AraujoAdriane Cardoso-DemartiniPublished in: Vascular and endovascular surgery (2022)
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.
Keyphrases
- atrial fibrillation
- amino acid
- cerebral ischemia
- high resolution
- liver failure
- case report
- young adults
- subarachnoid hemorrhage
- type diabetes
- risk factors
- metabolic syndrome
- intellectual disability
- extracorporeal membrane oxygenation
- early life
- hepatitis b virus
- replacement therapy
- upper limb
- insulin resistance
- skeletal muscle
- mechanical ventilation
- muscular dystrophy
- fluorescence imaging