Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.

Abstract

Cerebral sinovenous thrombosis is unusual during childhood and requires early and accurate management because of its detrimental consequences. We report on the case of a 2-year-old boy with mild psychomotor delay, who presented with nonfebrile acute ataxia. A brain computed tomographic (CT) scan showed complete thrombosis of the superior sagittal sinus, confirmed by magnetic resonance angiography and associated with a right frontal hemorrhagic infarction. Systematic screening for thrombophilia revealed homocystinuria linked to cystathionine β-synthase deficiency with underlying compound heterozygosity. The evolution was favorable after anticoagulant therapy, specific diet, and vitamin supplementation. This case is of interest because of the unusual clinical presentation as a pediatric cerebral sinovenous thrombosis. Furthermore, homocystinuria is rarely revealed by cerebral sinovenous thrombosis at the onset of the disease and should systematically be ruled out in pediatric stroke.

• Authors: Cécile Saboul, Stéphane Darteyre, Cécile Ged, Christine Fichtner, Claire Gay, Jean-Louis Stephan
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 1 Pg. 107-12 (Jan 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 24598125 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014.

Chemical References

• Anticonvulsants
• Homocysteine
• Gadolinium

Topics

• Anticonvulsants (therapeutic use)
• Brain (pathology)
• Cavernous Sinus Thrombosis (blood, complications, diagnosis)
• Child, Preschool
• Electroencephalography
• Epilepsy (drug therapy, etiology)
• Gadolinium
• Homocysteine (blood)
• Homocystinuria (physiopathology)
• Humans
• Magnetic Resonance Angiography
• Male
• Psychomotor Disorders (etiology)
• Tomography Scanners, X-Ray Computed