Trombose venosa cerebral e homocistinúria: relato de caso

Trombose venosa cerebral e homocistinúria: relato de caso

Alternative title Cerebral venous thrombosis and homocystinuria: case report
Author Silva, Gisele Sampaio Autor UNIFESP Google Scholar
Almeida, Carlos Maurício Oliveira De Autor UNIFESP Google Scholar
Felix, Evandro Penteado Villar Autor UNIFESP Google Scholar
Fukujima, Marcia Maiumi Autor UNIFESP Google Scholar
Ferraz, Henrique Ballalai Autor UNIFESP Google Scholar
Gabbai, Alberto Alain Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
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.
Keywords cerebral venous thrombosis
homocystinuria
trombose venosa cerebral
homocistinúria
Language Portuguese
Date 2001-09-01
Published in Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 59, n. 3B, p. 815-816, 2001.
ISSN 0004-282X (Sherpa/Romeo)
Publisher Academia Brasileira de Neurologia - ABNEURO
Extent 815-816
Origin http://dx.doi.org/10.1590/S0004-282X2001000500032
Access rights Open access Open Access
Type Article
SciELO ID S0004-282X2001000500032 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/1244

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