title: 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.affiliation: Department of Pediatrics, CHU Saint-Etienne, Saint-Etienne, France cecile.saboul@gmail.com.
authors.forename: Cécile
authors.initials: C
authors.lastname: Saboul
authors.affiliation: Department of Pediatric Rehabilitation, CHU Saint-Etienne, Saint-Etienne, France Research Group on Thrombosis-EA 3065, Université Jean Monnet, Saint-Etienne, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Darteyre
authors.affiliation: Department of Biology and Pathology, CHU Bordeaux, Bordeaux, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Ged
authors.affiliation: Department of Pediatric Rehabilitation, CHU Saint-Etienne, Saint-Etienne, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Fichtner
authors.affiliation: Department of Pediatrics, CHU Saint-Etienne, Saint-Etienne, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Gay
authors.affiliation: Department of Pediatrics, CHU Saint-Etienne, Saint-Etienne, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Stephan
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D020226:Cavernous Sinus Thrombosis / Q000097:blood / Q000150:complications* / Q000175:diagnosis*; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D005682:Gadolinium; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000503:physiopathology*; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D011596:Psychomotor Disorders / Q000209:etiology*; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D000927:Anticonvulsants; D006710:Homocysteine; D005682:Gadolinium
keywords: cerebral sinovenous thrombosis; childhood; homocystinuria