ABSTRACT
The prevalence of epilepsy is about 1%. Only two thirds of these patients respond satisfactorily to an antiepileptic drug (AED) treatment. New AED did not clearly improve this overall efficacy, but often show a better tolerability as compared to old AED. This may allow a more targeted choice, especially in some delicate clinical situations, such as for the treatment of women in childbearing age, or patients receiving other drugs with possible pharmacokinetic interactions. Invasive approaches should be considered early in the course of treatment-resistant epilepsy, and may offer a complete seizure remission in selected cases. On the background of recent acquisitions from the literature, the pros and cons of different treatment options are presented. This is followed by the discussion of some clinical relevant situations.
Subject(s)
Epilepsy/therapy , Adult , Anticonvulsants/therapeutic use , Humans , Neurosurgical ProceduresABSTRACT
The Chiari type I malformation (CM1) is characterized by herniation of cerebellar tonsils to at least 3-5 mm below the plane of foramen magnum and can present with a wide variety of clinical symptoms, frequently including occipital headaches, secondary to bulbar and/or medullary distress. Rarely, syncopal episodes have also been described and attributed to either compression of the midbrain ascending reticular system, or vascular compromise (vertebrobasilar artery compression, hypotension). We report the first case of a CM1 patient with frequently recurring syncope due to postural orthostatic tachycardia syndrome (POTS), a form of orthostatic intolerance, whose symptoms resolved completely after surgical intervention. It is important to stress that it is not clear whether the described association of POTS and CM1 in our patient is a fortuitous finding in an isolated case or a reflection of a more systematic association between the two pathologies.
Subject(s)
Arnold-Chiari Malformation/diagnosis , Cerebellum/abnormalities , Encephalocele/diagnosis , Hypotension, Orthostatic/etiology , Magnetic Resonance Imaging , Syncope/etiology , Adult , Arnold-Chiari Malformation/surgery , Cerebellum/pathology , Cerebellum/surgery , Decompression, Surgical , Encephalocele/surgery , Female , Follow-Up Studies , Humans , Hypotension, Orthostatic/surgery , Neurologic Examination , Syncope/surgery , Treatment OutcomeABSTRACT
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
