Fonseca Nuno, Vidal Nathalie, Santos José, Brito Ana Paula, Bernardino Leonel, Silvestre Isabel, Inês Lopes
Serviço de Cardiologia do Hospital de São Bernardo, Setúbal.
Rev Port Cardiol. 2003 Feb;22(2):223-30.
The authors present the case of a 25-year-old female patient, white, with mental retardation and proptosis, and a history of repeated cerebrovascular events. During investigation elevated levels of homocysteinemia and homocystinuria were demonstrated. The authors present a review of related literature.