Homocystinuria With Transverse Sinus Thrombosis

Buoni, Sabrina; Molinelli, M.; Mariottini, Aldo; Rango, Caterina; Medaglini, Sergio; Pieri, Sergio; Strambi, Mirella; Fois, Alberto

doi:10.1177/088307380101600913

Cited by 22 publications

(8 citation statements)

References 14 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: 63%

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: 63%

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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“…Martinelli et al (50) reported that patients with hyperhomocysteinemia had a four-fold higher risk to developing CVST. It is important to note that among the different etiologies, undiagnosed homocystinuria is not routinely considered (51, 52).…”

Section: Risk Factorsmentioning

confidence: 99%

Cerebral Venous Sinus Thrombosis Risk Factors

Saadatnia

Fatehi

Basiri

et al. 2009

International Journal of Stroke

112

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Cerebral venous sinus thrombosis is an uncommon disease marked by clotting of blood in cerebral venous, or dural sinuses, and, in rare cases, cortical veins. It is a rare but potentially fatal cause of acute neurological deterioration previously related to otomastoid, orbit, and central face cutaneous infections. After the advent of antibiotics, it is more often related to neoplasm, pregnancy, puerperium, systemic diseases, dehydration, intracranial tumors, oral contraceptives, and coagulopathies are the most common causes, but in 30% of cases no underlying etiology can be identified. It has been found in association with fibrous thyroiditis, jugular thrombosis after catheterization, or idiopathic jugular vein stenosis. Other factors include surgery, head trauma, arterio-venous malformations, infection, paraneoplastic, and autoimmune disease. This article presents a comprehensive review of cerebral venous sinus thrombosis etiologies.

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“…Bacterial or viral infections, [3][4][5][6] head or vascular trauma, surgery, immobilization or obesity, 17,22,24,32 jugular 33 or subclavian central venous lines, 7,34,35 solid tumors, leukemia and lymphomas, 8 autoimmune diseases, 9 renal diseases, 10 metabolic disorders, [13][14][15] birth asphyxia, 12 and cardiac malformations were predefined as predisposing clinical conditions. 2 In addition, drugs such as steroids 2,20,22,32 and Escherichia coli asparaginase, the use of sympathomimetics, coagulation factor concentrates, or oral contraceptives, and nicotine abuse were classified as underlying conditions.…”

Section: Underlying Clinical Conditionsmentioning

confidence: 99%

“…1 The disease is serious, and predisposing and influencing factors should be unraveled to identify patients at risk and to establish treatment regimens in children. Local or systemic infections, [3][4][5][6] vascular trauma, 7 cancer, acute lymphoblastic leukemia, drug toxicity, 8 lupus erythematosus, 9 nephrotic syndrome, 10 dehydration, 11 asphyxia, maternal problems during pregnancy, 12 Behçet's disease, 2 and metabolic disorders [13][14][15] have been described as predisposing factors.…”

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confidence: 99%

Cerebral Venous Thrombosis in Children

et al. 2003

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the Childhood Stroke Study GroupBackground-The present study was performed to assess the association of prothrombotic risk factors and underlying conditions (infections, vascular trauma, immobilization, malignancies, autoimmune diseases, renal diseases, metabolic disorders, obesity, birth asphyxia, cardiac malformations, and use of prothrombotic drugs) with cerebral venous thrombosis (CVT) in children. Methods and Results-From 1995 to 2002, 149 pediatric patients aged newborn to Ͻ18 years (median 6 years) with CVT were consecutively enrolled. In patients and in 149 age-and gender-matched children with similar underlying clinical conditions but without CVT, the factor V G1691A mutation, the factor II G20210A variant, lipoprotein(a) [Lp(a)], protein C, protein S, antithrombin, and antiphospholipid antibodies, as well as associated clinical conditions, were investigated. Eighty-four (56.4%) of the patients had at least 1 prothrombotic risk factor compared with 31 control children (20.8%; PϽ0.0001). In addition, 105 (70.5%) of 149 patients with CVT presented with an underlying predisposing condition. On univariate analysis, factor V, protein C, protein S, and elevated Lp(a) were found to be significantly associated with CVT. However, in multivariate analysis, only the combination of a prothrombotic risk factor with an underlying condition (OR 3.9, 95% CI 1.8 to 8.6), increased Lp(a) (OR 4.1, 95% CI 2.0 to 8.7), and protein C deficiency (OR 11.1, 95% CI 1.2 to 104.4) had independent associations with CVT in the children investigated. Conclusions-CVT in children is

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Homocystinuria With Transverse Sinus Thrombosis

Cited by 22 publications

References 14 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

Cerebral Venous Sinus Thrombosis Risk Factors

Cerebral Venous Thrombosis in Children

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