Biomedical subjects

P Bronner

Publications and source records attributed to P Bronner.

5 recordsLinked to original sources

PubMed2003

[Progression of cerebral venous thromboses. A retrospective study].

OBJECTIVES: The management of patients with presumed cerebral venous thrombosis has been recently modified by magnetic resonance imaging and evidence that the early use of heparin decreases mortality and morbidity. Long term outcome of patients with cerebral venous thrombosis (CVT) has rarely been described. We present the results of a follow-up study. METHODS: Twenty patients admitted between 1987 and 1999 for CVT were retrospectively studied. Outcome and follow-up were obtained from direct observation or telephone interviews. RESULTS: There were 16 women and 4 men aged a mean of 39 years (range: 19 to 72). The population was followed-up for a mean of 34 months (range: 12-96). All the patients were initially treated with full-dose heparin. Thirteen of the 20 patients (65%) exhibited no after effects. Seven patients (35%) remained neurologically impaired. The outcome of clinical forms with intracranial hypertension appeared better, but the existence of an initial neurological deficit is of poor prognosis. The small cohort in our series did not permit us to identify other poor prognostic factors. One patient (5%) exhibited subsequent epilepsy. Only one patient (5%) suffered for a second CVT. One patient died from an ovarian neoplasm. No systemic venous thromboembolic relapse was reported. Three patients had non complicated pregnancies. CONCLUSION: Recurrent CVT and systemic venous thrombo-embolic episodes are rare although heparin treatment was suspended early in more than half of the patients. This would question the indication of long-term antivitamin K, which is clearly indicated in auto-immune diseases but is debatable in cases of thrombophilia.

Adult↗

PubMed2002

[Thrombophilias associated with cerebral venous thrombosis].

Many coagulation disorders have been associated with cerebral venous thrombosis. These disorders may be primary like protein C and S deficiency, antithrombine III deficiency and activated protein C resistance. Antiphospholipid antibodies represent an acquired disorders of coagulation. A prothrombotic state induced by more common factor including oral contraceptive, pregnancy and puerperium increases the venous thrombosis risk.

3' Untranslated Regions↗

PubMed2000

[Atypical phenotype of Fabry disease. Evidence of a new mutation].

BACKGROUND: Fabry disease is a lysosomal disease resulting from deficient alpha galactosidase A activity. The enzyme's gene is situated on Xq22-1. Cardiac and cerebrovascular complications are usually observed late in the disease course. CASE REPORT: A 54-year-old patient was admitted for ischemic stroke subsequent to thrombosis of the right sylvian artery. The only significant event in the patient's history was hypertrophic cardiomyopathy that had progressed for 9 years. Search for an etiology identified alpha galacosidase A deficiency. Gene sequencing identified a new mutation. DISCUSSION: Two clinical forms of Fabry disease are described. The classical form has an early onset and is associated with systemic manifestations. The less common atypical form is associated with late-onset cardiomyopathy with no other systemic manifestations. Several mutations of the alpha galactosidase A gene have been recognized but to date no correlation has been established between the genotype and the phenotype. Our patient had an "intermediary" form of the disease associating a late onset, predominant cardiac manifestations, and limited systemic manifestations. The mutation observed in this case has not been described previously. Its relationship with the observed clinical phenotype remains to be demonstrated.

Age of Onset↗

PubMed2000

[Lysosome enzyme pseudodeficiency].

Inherited deficiency of lysosomal hydrolase often displays different clinical features. However, a greatly reduced enzyme activity may be observed in healthy individuals. This pseudo-deficiency concerns at least nine lysosomal hydrolases. When a deficiency has been proved, the presence of mutations known to cause pseudodeficiencies must be searched, above all in Tay-Sachs disease and metachromatic leukodystrophy.

Cerebroside-Sulfatase↗

PubMed1999

[Eales disease with neurologic manifestation: differential diagnosis of multiple sclerosis. Report of two cases].

BACKGROUND: Eales disease is a condition associating recurrent vitreous and retinal hemorrhage related to retinal periphlebitis. This ophthalmological disease is sometimes associated with central nervous system manifestations. CASE REPORT: Two patients with Eales disease of the retina developed a progressively worsening neurological deficit several years later. DISCUSSION: Evidence of multifocal anomalies of the white matter initially suggested a possible association of Earles disease with multiple sclerosis. Pathology findings enable formal differentiation of these two entities. Earles disease with neurological manifestations remains an uncommon condition and constitutes a differential diagnosis of multiple sclerosis.

Adult↗