RESUMO
This case of recurrent cerebral venous thrombosis (CVT) highlights hyperhomocysteinemia in pernicious anemia due to vitamin B12 deficiency. No other risk factors such as trauma, infections, coagulation disorders or autoimmune diseases were present. The patient was cured with vitamin B12 and anticoagulation therapy. So, it is worthwhile and important to investigate levels of vitamin B12 and homocysteine in CVT.
Assuntos
Anemia Perniciosa , Hiper-Homocisteinemia , Trombose Venosa , Deficiência de Vitamina B 12 , Anemia Perniciosa/complicações , Anemia Perniciosa/diagnóstico , Anemia Perniciosa/tratamento farmacológico , Ácido Fólico , Humanos , Hiper-Homocisteinemia/complicações , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/tratamento farmacológico , Trombose Venosa/etiologia , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/tratamento farmacológicoRESUMO
Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.
