Cerebral infarction complicated with multiple arterial thrombosis caused by cystathionine beta-synthase gene mutation in youth: a case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 952-956, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-911820
ABSTRACT
Hyperhomocysteinemia (HHcy) is one of the independent risk factors for youth cerebral infarction. Gene mutation of key enzymes in homocysteine metabolism is the main cause of HHcy. Few cases of cystathionine beta-synthase (CBS) compound heterozygous mutation complicated with pulmonary embolism and lower extremity artery embolism have been reported. This article reported a young cerebral infarction patient complicated with pulmonary embolism and lower extremity artery embolism, who was subsequently detected with significantly elevated blood Hcy, and finally etiologically diagnosed with CBS 833 T>C/1082C>T compound heterozygous mutation. With the treatment of folic acid, methyl cobalt amine, vitamin B 6 and anticoagulant, the blood Hcy has been gradually declined, and no new thrombotic events occurred during the follow-up period of a year.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Fatores de risco
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2021
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS