[Homocystinuria discovered by repetition of cerebrovascular thrombosis]

ABSTRACT

Homocystinuria is genetic autosomal recessive disease. The responsible gene of this disease is found in chromosome 21. Its prevalence in France is estimated at one case/ 60000 persons. The neurological manifestations of this disease are rare and diverse. Venous and cerebrovascular accidents are frequent among children who suffer from homocystinuria. These manifestations reveal sometimes the existence of the disease. We report a case of homocystinuria discovered through repeated ischemic cerebrovascular accidents from witch a 22 year-old patient suffers. The patient suffered at the age of 17 and 22 from five neurological episodes of ischemic cerebrovascular accidents associated with epileptic crises and right lower limb phlebitis. The association of venous and arterial thrombotic accidents evocates homocystinuria, particularly. Our clinical case highlights the importance of examining systematically every child suffering from a first cerebrovascular accident for homocystinuria, especially if it is associated with a marfanoid aspect