‘Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency’

Vorstman, Ewoud; Keeling, D. H.; Leonard, James V.; Pike, Disease Michael

doi:10.1111/j.1469-8749.2002.tb00314.x

Cited by 5 publications

(2 citation statements)

References 2 publications

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“…Vitamin unresponsive forms of CBS deficiency seem to be more severe, manifesting earlier with more mental retardation or psychiatric disorders. CSVT due to CBS deficiency has been described (11)(12)(13), exceptionally as the only feature (14) as in our case. To our best of knowledge, CBSrelated post-partum CSVT has never been described before.…”

Section: Discussionsupporting

confidence: 61%

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Nový¹,

Ballhausen²,

Bonafé³

et al. 2010

Thromb Haemost

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Dear Sirs, Cerebral sinus vein thrombosis (CSVT) is a rare cause of stroke affecting three times more frequently women than men. Other than genetic, local or environmental factors, pregnancy and puerperium are predisposing conditions to CSVT (1). Recurrence is exceptional (2). CVST is rarely caused by hyperhomocysteinaemia. Mild hyperhomocysteinaemia mostly results from methylenetetrahydrofolate reductase (MTHFR) deficiency (3, 4), or dietary vitamin deficiency. Severe hyperhomocysteinaemia (homocystinuria) is mostly due to cystathionine-β-synthase (CBS) deficiency (OMIM 236200). CBS deficiency usually presents in childhood with skeletal abnormalities (osteoporosis, scoliosis, or marfanoid features) in 90%, ocular abnormalities (lens ectopia or severe myopia) in 86%, mental retardation (55%), but vascular complications are less frequent (45%) (5, 6). These features are less frequently encountered when the disease is discovered in adults (6). We report here the case of a young woman who developed CSVT after each of her two deliveries, the second time even

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Section: Discussionsupporting

confidence: 61%

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Nový¹,

Ballhausen²,

Bonafé³

et al. 2010

Thromb Haemost

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“…Infection, 19 trauma, 28 and dehydration 20,21 can be associated with this condition. Genetic and acquired prothrombotic disorders, 18,29,30 anemia, 22,31,32,33 and homocystinuria 34,35 are risk factors for sinus thrombosis. The clinical course of sinus thrombosis remains unpredictable, and neurological dysfunction or death may rapidly ensue.…”

Section: Discussionmentioning

confidence: 99%

Dural Scalp and Intracranial Hemangiomas Causing Hydrocephalus and Venous Sinus Thrombosis in an Infant

et al. 2011

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Cutaneous scalp hemangiomas may herald the presence of occult intracranial hemangiomas. A previously healthy 4-month-old girl presented with a bleeding scalp hemangioma, a bulging fontanel, and anemia. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus along with multiple intracranial hemangiomas. These lesions compressed the jugular foramina, resulting in venous sinus thrombosis involving the right transverse sinus, the left sigmoid sinus, and the torcular herophili. The patient had no family history of phakomatoses or other genetic abnormalities. A thrombophilia work-up result was unremarkable. The patient was treated with prednisolone (10 mg twice daily) and low molecular weight heparin (1 mg/kg/dose) twice daily. This treatment decreased the size of her cutaneous and intracranial hemangiomas and led to the resolution of her venous sinus thromboses and hydrocephalus. Innocuous scalp hemangioma in an infant may herald more concerning intracranial pathology, which can be treated effectively if diagnosed with appropriate imaging studies.

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Cerebral Venous Sinus (Sinovenous) Thrombosis in Children

Dlamini

Billinghurst

Kirkham³

2010

Neurosurgery Clinics of North America

189

195

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Cerebral venous sinus (sinovenous) thrombosis (CSVT) in childhood is a rare, but underrecognized, disorder, typically of multifactorial etiology, with neurologic sequelae apparent in up to 40% of survivors and mortality approaching 10%. There is an expanding spectrum of perinatal brain injury associated with neonatal CSVT. Although there is considerable overlap in risk factors for CSVT in neonates and older infants and children, specific differences exist between the groups. Clinical symptoms are frequently nonspecific, which may obscure the diagnosis and delay treatment. While morbidity and mortality are significant, CSVT recurs less commonly than arterial ischemic stroke in children. Appropriate management may reduce the risk of recurrence and improve outcome, however there are no randomized controlled trials to support the use of anticoagulation in children. Although commonly employed in many centers, this practice remains controversial, highlighting the continued need for high-quality studies. This article reviews the literature pertaining to pediatric venous sinus thrombosis.

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‘Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency’

Cited by 5 publications

References 2 publications

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Dural Scalp and Intracranial Hemangiomas Causing Hydrocephalus and Venous Sinus Thrombosis in an Infant

Cerebral Venous Sinus (Sinovenous) Thrombosis in Children

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