Homocystinuria Presenting as Sagittal Sinus Thrombosis

Cochran, Frederick B.; Packman, Seymour

doi:10.1159/000116778

Cited by 32 publications

(12 citation statements)

References 10 publications

(17 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Cerebral Venous Thrombosis in Children

et al. 2003

View full text Add to dashboard Cite

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

show abstract

Section: Underlying Clinical Conditionsmentioning

confidence: 99%

mentioning

confidence: 99%

Cerebral Venous Thrombosis in Children

et al. 2003

View full text Add to dashboard Cite

show abstract

“…However, there are a few case reports of children and young adults presenting with stroke in the absence of other signs of homocystinuria (Newman and Mitchell 1984, Cochran and Packman 1992, Cruysberg et al 1996, Kerrin et al 1996, Lu et al 1996. Our patient is, nevertheless, unusual in presenting in infancy with both arterial thrombosis in the absence of any of the phenotypic concomitants of homocystinuria (mental retardation, skeletal abnormalities, marfanoid habitus, and lens dislocation).…”

Section: Discussionmentioning

confidence: 99%

Fatal haemorrhagic infarct in an infant with homocystinuria

Cardo

Campistol

Caritg

et al. 1999

Develop Med Child Neuro

View full text Add to dashboard Cite

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6‐month‐old infant who presented with a large middle‐cerebral‐artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine b ‐synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.

show abstract

“…Markers of platelet activation and thrombin generation such as urinary thromboxane B2 and plasma F1.2 are elevated, and activated protein C is diminished (consistent with compensatory increased fibrinolytic activity) in these individuals [14••,15]. Venous infarction secondary to spontaneous cerebral venous thrombosis is a well-established mechanism of stroke in these patients [16]. Rare reports exist of spontaneous arterial system thrombosis with secondary embolism in these individuals (Kelly, Unpublished data) [1].…”

Section: Mechanisms Of Stroke Associated With Elevated Homocysteinementioning

confidence: 99%

Management and prevention of stroke associated with elevated homocysteine

Kelly

Furie

2002

Curr Treat Options Cardio Med

View full text Add to dashboard Cite

Observational data from prospective and retrospective studies indicate that elevated homocyst(e)ine (Hcy) is associated with preclinical markers of cerebrovascular disease and ischemic stroke. Although the exact mechanisms of this association are unresolved, data indicate that elevated Hcy promotes cerebral, arterial, and venous thrombosis, and may predispose to premature atherosclerosis and craniocervical arterial dissection. Plasma Hcy is a sensitive marker of low folate, B(12), and B(6) status. Data consistently indicate that folic acid supplementation in the form of vitamin tablets is the most effective strategy to lower mild-to-moderately elevated Hcy, with maximal benefit occurring in individuals with higher pretreatment Hcy or lower pretreatment folate levels. B(12) supplementation confers a minor additional benefit, whereas B(6) supplementation has not been demonstrated to confer further benefit. Despite reports that Hcy-lowering therapy may improve surrogate measures of vascular disease, the outcomes of clinical trials for secondary stroke prevention are pending. Until this information is available, we concur with the American Stroke Association guidelines for stroke prevention. Specifically, we recommend good dietary intake of foods rich in folic acid, B(6), and B(12) for primary prevention, and supplemental multivitamins (folic acid 400 g to 1 mg daily, B(12) 400 to 600 g daily, B(6) 2 to 10 mg daily) for individuals with known cerebrovascular disease and hyper-Hcy.

show abstract

Homocystinuria Presenting as Sagittal Sinus Thrombosis

Cited by 32 publications

References 10 publications

Cerebral Venous Thrombosis in Children

Cerebral Venous Thrombosis in Children

Fatal haemorrhagic infarct in an infant with homocystinuria

Management and prevention of stroke associated with elevated homocysteine

Contact Info

Product

Resources

About