1/8. 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.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
2/8. factor v Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.Venous and arterial thromboembolism can occur in patients with homocystinuria. Resistance to activated protein c, which is caused by a single point mutation in the gene for factor v, renders an individual at risk for thrombosis. It has been suggested that coexistence of hereditary homocystinuria and factor v Leiden mutation might jointly play a role in the development of thrombosis. We analysed six patients with homocystinuria due to cystathionine beta-synthase deficiency for factor v Leiden and prothrombin G20210A mutations. Only one patient was found to have the factor v Leiden mutation in homozygous form and this patient had suffered from severe thrombosis. One patient was found to be heterozygous with no documented thrombosis. None of the patients had prothrombin G20210A mutation. We stress the necessity for screening for known thrombophilic risk factors in patients with cystathonine beta-synthase deficiency. The coexistence of the factor v Leiden mutation can cause severe thrombotic events in patients with homocystinuria.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
3/8. General anesthesia for patient with homocystinuria--a case report.homocystinuria is an autosomal recessive disease with multiple systemic disorders. Here we report a 15-year-old lad suffering from homocystinuria who required an ocular surgery including lentectomy and implant of plastic lens, OS and anterior retinal cryotherapy, OD under general anesthesia because of lens subluxation and lattice degeneration. It is the elective ocular procedure most commonly performed for homocystinuric children. Proper precautions should be taken during anesthetic management since this condition inspires some particular anesthetic complications that could be prevented by careful consideration and understanding of its pathophysiology. Providentially our patient stood the operation well and was discharged without subsequent thromboembolism or other complication as an aftermath.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
4/8. homocystinuria presenting as sagittal sinus thrombosis.Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis to be the single clinical feature leading to investigation for homocystinuria. We report an academically superior teenage boy who presented with sagittal sinus thrombosis, papilledema, transient right hemiparesis, and pneumothoraces. pyridoxine-unresponsive homocystinuria was diagnosed by aminogram, enzyme assay, and clinical trial. Treatment has been with methionine restriction and betaine. homocystinuria should be considered in patients with unusual vascular lesions or premature thromboembolism.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
5/8. General anesthesia for patient with type III homocystinuria (tetrahydrofolate reductase deficiency).homocystinuria, a rare autosomal recessive genetic disease, is generally classified into 3 types (types I-III). Extremely rare type III is from a defect of the enzyme tetrahydrofolate reductase which converts homocysteine to methionine. The anesthetic problem of type III homocystinuria is the elevation of serum homocysteine and the deficiency of essential amino acid methionine, which result in the perioperative thromboembolic events and nitrous oxide-induced neurological impairment. We provided successful anesthetic management for a patient with type III homocystinuria, during which we were careful to take measures against perioperative thromboembolism and did not use nitrous oxide.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
6/8. pyridoxine-unresponsive homocystinuria with an unusual clinical course.Progressive premature atherosclerosis and associated thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, thrombosis is rarely the predominant or presenting manifestation leading to the diagnosis of homocystinuria. We report on an otherwise asymptomatic teenage boy of normal intelligence who had a superior sagittal sinus thrombosis documented by CT and MRI scans. He presented with pneumothoraces, papilledema, and transient right hemiparesis. He subsequently developed empyema and necrotizing pneumonia as well as deep venous thromboses. The diagnosis of pyridoxine-unresponsive homocystinuria was made on the basis of clinical chemistry analyses, enzyme assay, and clinical trial. He has remained symptom-free under treatment with betaine and methionine restriction. We suggest that there exists a subset of patients with pyridoxine-unresponsive homocystinuria who are at risk for thromboembolism, but who may remain undiagnosed because of an otherwise mild clinical course.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
7/8. Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).We report an infant with a bronchiolitis-like illness and rapid deterioration who developed a cor pulmonale-like picture with a dilated right ventricle. Urinary organic acid assays established a probable diagnosis of Cbl-C-type methylmalonic aciduria, later confirmed by complementation studies. Despite medical intervention and cyanocobalamin treatment the patient died on his tenth hospital day. Postmortem examination showed the presence of thromboemboli in the pulmonary circulation. We hypothesize that acute cor pulmonale developed in this infant secondary to thromboembolism of his pulmonary circulation. A review of the literature shows that thromboembolism may be a part of this disease process.- - - - - - - - - - ranking = 2keywords = thromboembolism (Clic here for more details about this article) |
8/8. homocystinuria treated with pyridoxine.Four cases of homocystinuria with lens luxation have been examined. As judged from the plasma amino acid pattern, they all responded well on pyridoxine treatment. Two of them discontinued the treatment on their own, and one of these died at the age of 17 years. The lens luxation progressed in one case despite adequate treatment. Scanning electron microscopy of one lens revealed partly broken zonules, abnormal zonular attachment, and a spongy appearance of the capsule proper. Hoping that adequate treatment will reduce more serious complications such as thromboembolism in these patients, it is concluded that an early diagnosis largely depends on the ophthalmologist, who should perform the silver-nitroprusside test, specific for homocystinuria, in all patients with non traumatic lens luxation.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |