Trombose venosa cerebral e homocistinúria: relato de caso

Abstract

Homocystinuria presenting as cerebral venous thrombosis is not usual. We report on a 13-year-old boy who was admitted to the hospital due to severe headache, nausea, vomiting and fever (38ºC). The patient was Marfan like and presented left hemiparesis and meningeal irritation sings. He was mentally retarded, had severe myopia, and had right lens dislocation one month before. Cranial CT scan was suggestive of cerebral venous infarct. MRI and magnetic resonance angiography showed venous infarcts more prominent in the right thalamic projection with hemorrhagic transformation and multiple foci of cortical (occipital and parietal bilaterally) deep parietal and left capsular bleeding, secondary of thrombosis of the transverse and sigmoid venous sinuses. High levels of homocysteine were detected in the blood and urine. Homocystinuria is an autossomal recessive inborn error of methionine metabolism caused by cystathione-ß-synthase defect in most cases. We discuss the clinical and radiological findings in this patient, analyzing the pathophysiology of the thrombotic events related to homocystinuria.

Homocistinúria apresentando-se como trombose venosa cerebral é incomum. Relatamos o caso de um adolescente com características fenotípicas de homocistinúria que foi admitido por cefaléia intensa, vômitos e sonolência. Investigação diagnóstica com tomografia computadorizada de crânio, ressonância magnética e angiorressonância foi compatível com trombose dos seios transversos e sigmóides. Altos níveis de homocisteína foram detectados no sangue e na urina. Apresentamos os aspectos clínicos e radiológicos deste caso discutindo a controversa fisiopatologia da tendência trombofílica associada a homocistinúria.