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1/27. Fatal haemorrhagic infarct in an infant with homocystinuria.

    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 beta-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.
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2/27. Resistance to activated protein c as an etiology for stroke in a young adult: a case report.

    Resistance to activated protein c (R-APC) is an inherited, autosomal dominant, coagulation abnormality that is increasingly recognized as an important etiology for thromboembolic disease and stroke in young adults. This report describes the case of a 27-year-old woman taking oral contraceptives who experienced an acute thrombotic right hemispheric stroke. Three days after rehabilitation admission (33 days after stroke) she developed a left femoral deep venous thrombosis (DVT) despite appropriate prophylaxis. Further diagnostic workup for the stroke and DVT identified R-APC, possibly exacerbated by oral contraceptives, as the etiology. hematology consultation recommended lifetime anticoagulation with warfarin. The patient's family history revealed that a 19-year-old cousin had died of a stroke several years earlier. Several months after discharge, an acute DVT occurred in the patient's 28-year-old brother, who tested positive for factor v Leiden, a genetic abnormality closely associated with R-APC. A thrombotic stroke occurred in her grandfather a few months later, but he was not tested. Her father demonstrated a "borderline" positive R-APC test and probably represents the genetic link. Indications for patient and family screening regarding R-APC and other forms of hereditary thrombophilia and implications for rehabilitation medicine physicians are discussed.
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3/27. Acute deterioration from thrombosis and rerupture of a giant intracranial aneurysm.

    The authors describe a patient with an unusual clinicopathologic picture of giant aneurysmal hemorrhage followed by sudden deterioration due to acute intra-aneurysmal thrombosis and fatal rebleeding. This patient underscores the poor natural history associated with this devastating disease and serves to highlight the dangers inherent in the delayed treatment of these life-threatening lesions.
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4/27. thromboembolism originated from the pulmonary artery stump after Fontan operation.

    Cerebral thromboembolism is a rare but serious complication after Fontan operation. This is the report of a patient who underwent a successful intracardiac thrombectomy for cerebral thromboembolism after Fontan operation. A 2-year-old girl was referred to us with the diagnosis of tricuspid atresia without pulmonary stenosis, normally related great arteries, and a ventricular septal defect. Although she underwent a successful Fontan operation and division of the main pulmonary artery, she developed a cerebrovascular event at 3 weeks after the operation. echocardiography demonstrated a large thrombus within the residue of the main pulmonary artery, and suggested that the thrombus had migrated into the systemic circulation by way of the ventricular septal defect. At 2 weeks after the cerebrovascular event, she underwent thrombectomy and excision of the pulmonary valve. Although she has developed slight left-sided hemiparesis, she is leading a normal life at 1 year after the operation.
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5/27. Unusual manifestations of penetrating cardiac injuries.

    Penetrating cardiac injuries frequently first appear in an unusual and insidious manner, and their diagnosis may not be immediately obvious. In a series of 20 cases of cardiac injury, ten cases were indicative of such subtle symptoms, several of which were life-threatening. These unusual manifestations can be categorized as early, intermediate, or late. Early problems of four patients included the following: (1) sudden onset of shock during laparotomy, performed due to apparent abdominal trauma; (2) cardiac arrest on arrival in the emergency room; and (3) cerebral air embolus and mimicked symptoms of possible irreversible anoxic brain damage. The intermediate manifestations of cardiac injury are usually discovered in the early recovery period, and include myocardial infarction with cardiogenic shock and bullet embolus to a peripheral artery. Intermediate manifestations were observed in two patients. Four patients had late complications that included pseudoaneurysm, ventricular septal defect, valvular damage, and recurrent pericarditis. These late complications were observed between one month and 21 years after cardiac injury. This indicates the necessity of long-term follow-up of these patients.
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6/27. Spontaneous thrombosis of an aneurysm of the middle cerebral artery with subarachnoid haemorrhage in a 6-year-old child: case report.

    A 6-year-old boy had a sudden onset of rupture of an aneurysm of the middle cerebral artery. Narrowing of an artery proximal to the aneurysm was shown on an angiogram taken two days after the rupture. At operation, clipping of the aneurysm prevented further bleeding. This artery thrombosed spontaneously in the postoperative period. The outcome was favourable, and the patient returned to school life. Spontaneous thrombosis of an artery after subarachnoid haemorrhage in children is rare, and thrombosis of aneurysm is very rare. To our knowledge, this is the third reported case of spontaneous thrombosis of a cerebral saccular aneurysm with subarachnoid haemorrhage.
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7/27. Paradoxical cerebral emboli associated with pulmonary arteriovenous shunts: report of three cases.

    Paradoxical embolism to the cerebral circulation is rarely diagnosed in life; however, three such cases have recently been observed: two with multiple congenital pulmonary arteriovenous malformations and one with an acquired arteriovenous fistula. In each case the pulmonary lesion(s) were treated by percutaneous balloon embolizations. Paradoxical embolism should be included in the differential diagnosis of cerebral arterial embolism for which there is no obvious source, especially when there is also evidence of concurrent peripheral venous thrombosis and/or pulmonary embolism.
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8/27. Wallenberg's syndrome: a first-person account.

    As clinicians, we may be faced with the patient who has had a stroke with resultant visual and ocular manifestations. Often it is difficult to appreciate the implications of the symptoms and their effects on the quality of life. In this article the first author describes his experiences as a patient, with the hope that this account will assist others to understand this condition better, thus resulting in both enhanced care and sensitivity.
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9/27. Cerebral venous thrombosis as presenting sign of myeloproliferative disorders.

    Two patients with cerebral venous thrombosis are described. In both patients laboratory findings suggested an underlying haematological disorder and bone marrow biopsy showed a myeloproliferative disorder. Both chronic cerebral venous thrombosis and early myeloproliferative disorders are difficult to diagnose. Their combined occurrence may be less rare than is frequently supposed.
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10/27. Thrombo-embolic complication after streptokinase therapy of pulmonary emboli.

    A 58-year old patient is reported who developed an ischaemic cerebrovascular accident 22 hours after successful thrombolysis with streptokinase for life-threatening pulmonary emboli. Despite effective thrombolysis, the plasma fibrinogen level rose during streptokinase administration and reached extremely high values 72 hours later. The mechanism of this unusual early and extreme rise of fibrinogen levels is unclear but it probably played a role in the pathogenesis of the cerebrovascular accident.
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