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Journal of Child Neurology
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Homocystinuria With Transverse Sinus Thrombosis

Sabrina Buoni, MD

Institute of Clinical Pediatrics

Massimo Molinelli, PhD

Institute of Clinical Pediatrics

Aldo Mariottini, MD

Institute of Neurosurgery

Caterina Rango, MD

Institute of Preventive Pediatrics

Sergio Medaglini

Institute of Clinical Pediatrics

Sergio Pieri, MD

Institute of Neurosurgery

Mirella Strambi, MD

Institute of Preventive Pediatrics

Alberto Fois, MD

Department of Pediatrics University of Siena Siena, Italy

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. (J Child Neurol 2001;16:688-690).

Journal of Child Neurology, Vol. 16, No. 9, 688-690 (2001)
DOI: 10.1177/088307380101600913
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