Homocystinuria with transverse sinus thrombosis

被引:14
作者
Buoni, S
Molinelli, M
Mariottini, A
Rango, C
Medaglini, S
Pieri, S
Strambi, M
Fois, A
机构
[1] Univ Siena, Inst Pediat Clin, Siena, Italy
[2] Univ Siena, Inst Neurosurg, Siena, Italy
[3] Univ Siena, Inst Prevent Pediat, Siena, Italy
[4] Univ Siena, Dept Pediat, Siena, Italy
关键词
D O I
10.1177/088307380101600913
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed. Cerebral venous thrombosis in children has a variable type of onset and a multiplicity of causes. This type of pathology, although not frequent, is more common than previously thought. Among the different etiologies, undiagnosed homocystinuria is not routinely considered. We report a case of venous thrombosis of the left transverse cerebral sinus in a girl with drug-resistant partial epilepsy and homocystinuria. This diagnosis was considered and confirmed after the appearance of acute cerebral symptoms caused by venous thrombosis.
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页码:688 / 690
页数:3
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