1/9. Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q.Autosomal dominant partial epilepsy with auditory features (ADPEAF) has been identified as a distinct genetic syndrome. Several families have been described linked to chromosome 10q24, which carries mutations in the LGI1 gene. We report a small new pedigree with partial epilepsy with auditory symptoms. We performed a detailed clinical study of the family, constructed an extended pedigree comprising 106 individuals, and obtained blood samples for genetic analysis. Individuals with seizures also underwent neurophysiological and neuroradiological investigations. Genetic analysis was performed with six microsatellite markers spanning to the critical region of chromosome 10q24. mutation analysis of the coding sequence of LGI1 was performed in two patients. Five members of the family in generation IV had seizures. Three individuals had auditory auras, followed by generalised seizures in two and brief loss of contact in one, one had nocturnal tonic-clonic seizures with an EEG suggestive of right temporal lobe onset, and one only had febrile seizures. In addition, a deceased woman was said to have had seizures. Haplotype analysis of this region of chromosome 10q24 failed to disclose a common haplotype in affected family members and no disease-associated mutations were detected in the LGI1 gene, suggesting that this locus is not associated with the disease in our family. Our small sample with partial epilepsy with auditory symptoms, clinically resembles previously described ADPEAF families. However, the low number of patients is compatible with either autosomal dominant or other inheritance patterns. In the case of the former, the lack of segregation with 10q24 suggests that a second locus is involved in the aetiology of ADPEAF; in the latter, an epileptic syndrome also characterized by auditory features, but distinct from ADPEAF, could be transmitted in this family. ( info) |
2/9. Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle cramps since 1983. To prevent recurrent myocardial infarction, anticoagulation therapy with phenprocumon was initiated. Cardiac involvement progressed over an 8-year period, manifesting as low-voltage electrocardiogram (ECG), ectopic supraventricular tachycardia, thickened mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy, and diastolic dysfunction. Progression of neurologic involvement manifested as complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, and distal weakness of the upper extremities. Discontinuance of oral anticoagulation after 19 years, initiation of enalapril therapy, and administration of carbamazepine markedly improved the patient's condition. ( info) |
3/9. Painful focal sensory seizure arising from the primary somatosensory cortex.A 31-year-old, right-handed woman had frequent focal painful seizures involving the right hand without any movement. EEG demonstrated an ictal activity arising from the left centroparietal region. No cerebral structural abnormality was seen on MRI. Ictal single photon emission CT showed markedly increased activity in the left perirolandic cortex, which remained active following the ictal symptoms when the EEG seizure pattern had completely disappeared. It is concluded that the painful seizures in the present patient originated from the primary somatosensory cortex. The prolonged increase of regional blood flow in the perirolandic area may reflect the possibility of persistent subclinical epileptogenicity. ( info) |
4/9. Shunt-responsive dementing illness in a Nigerian--a case report.dementia is a growing medico-social problem worldwide because of the rising population of the elderly. About 10-30% of the cases have been found to be treatable or reversible with the improvement in neuro-diagnostic and neuro-imaging techniques. These reversible cases should be diagnosed without over-investigating the many patients with irreversible disease. We present a case of a reversible dementia due to Normal pressure hydrocephalus with dramatic surgical therapeutic response. ( info) |
5/9. Epileptic kinetopsia: ictal illusory motion perception.A 38-year-old woman with a right posterior temporo-occipital brain tumor developed partial seizures with illusory motion perception of environmental objects going from the center to the periphery within her left visual field. Subdural EEG recordings during visual seizures revealed onsets in the right temporo-parieto-occipital junction. Her ictal visual distortion was probably caused by activation of V5, an area involved in motion perception. Given that the tumor location corresponds with the ictal onset in the V5 area, and the semiology of her seizures, this case supports that epileptic dysfunction in V5 can cause illusions of visual motion. ( info) |
6/9. The significance of ear plugging in localization-related epilepsy.PURPOSE: The localizing value of ear plugging in the treatment of auditory onset partial seizures, to our knowledge, has not been previously described. We propose that ear plugging is a clinical response to a sensory seizure manifested as an auditory hallucination and a tool for identifying the seizure focus in the auditory cortex on the superior temporal gyrus. methods: We report on three children who had prior epilepsy surgery for recurrent symptomatic localization-related epilepsy and who, subsequent to their surgery, displayed stereotyped unilateral or bilateral ear plugging at the onset of partial seizures. We studied scalp video electroencephalography (VEEG), magnetoencephalography (MEG), and magnetic resonance imaging (MRI) in all three. Additionally, we used electrocorticography (ECoG) in two patients, intracranial VEEG monitoring in one patient, and functional MRI language mapping in two patients. RESULTS: All three patients plugged their ears with their hands during auditory auras that localized to the superior temporal gyrus and were followed by partial seizures that spread to a wider field, as shown on scalp and intracranial VEEG. All three patients had MEG interictal discharges in the superior temporal gyrus. One patient who was nonverbal and unable to describe an auditory phenomenon plugged the ear contralateral to where temporal lobe-onset seizures and MEG interictal discharges occurred. CONCLUSIONS; ear-plugging seizures indicate an auditory aura and may also lateralize seizure onset to the contralateral temporal lobe auditory cortex. Stereotyped behaviors accompanied by epileptic seizures in children who have poor communication skills are important in the seizure semiology of localization-related epilepsy. ( info) |
7/9. Gaze-evoked brainstem myoclonus.The clinical and electrophysiological aspects of a case where brainstem reticular reflex myoclonus was related to an enlarging pontine lesion are described. It had the unusual characteristic of being evoked by sustained up gaze and left gaze. ( info) |
8/9. Simple partial seizures with hemisensory phenomena and dysgeusia: an insular pattern.Insular seizures are rarely described, in part owing to the complex anatomy of this brain region. We present a patient with simple partial seizures, recorded intracranially, originating in the right insula and characterized by dysgeusia and contralateral somatosensory phenomena. This rare clinical pattern seems to be characteristic of the insula and may be undetectable with surface EEG. ( info) |
9/9. Non-ketotic hyperglycaemia-related paroxysmal bilateral hand paraesthesia misdiagnosed as diabetic neuropathy.Non-ketotic hyperglycaemia (NKH)-related partial seizure disorders are not uncommon in clinical practice but still deserve attention as they significantly affect neurologic outcome if unnoticed. The atypical presentation of sensorimotor symptoms can be seen in this setting, with paroxysmal character as the rule. Atypical manifestations could cause confusion and might lead to improper diagnosis and treatment. We report a case of inadequately controlled diabetes mellitus and NKH presenting as paroxysmal paraesthesia of both hands, which was misdiagnosed as diabetic neuropathy. ( info) |