1/39. A case of Lafora's disease associated with cardiac arrhythmia.Progressive myoclonic epilepsies are rare, genetically transmitted diseases characterized by epileptic seizures, myoclonus, and progressive neurologic deterioration. Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinosis, mitochondrial disorders, and sialidosis are included in this group. Lafora's disease is a progressive disorder of the central nervous system with onset in the late first or second decade of life and is inherited in an autosomal-recessive pattern. The first clinical manifestation is generalized tonic-clonic seizures, myoclonus, or both, usually seen between the ages of 11 and 18 years. The other clinical manifestations are progressive dementia and limb ataxia. diagnosis is based on showing the typical inclusions in the brain, liver, skin, or muscle tissue specimens. The case of a 6-year-old male patient, who was admitted with the clinical findings of third-degree atrioventricular block and dementia and eventually diagnosed with Lafora's disease, is presented.- - - - - - - - - - ranking = 1keywords = epileptic, seizure (Clic here for more details about this article) |
2/39. Investigation of a cryptic interstitial duplication involving the Prader-Willi/angelman syndrome critical region.A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.- - - - - - - - - - ranking = 0.29157654788421keywords = seizure (Clic here for more details about this article) |
3/39. Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome.Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children.- - - - - - - - - - ranking = 1.2632789666828keywords = epilepsy, epileptic (Clic here for more details about this article) |
4/39. Worster-Drought and congenital perisylvian syndromes-a continuum?A 5-year-old female was evaluated because of severe speech and expressive language delay. On examination, she could hardly speak and communicated through gestures. She manifested severe dysarthria and difficulty in protruding and moving her tongue laterally. She lacked coordination of the swallowing process, with drooling and an increased mental reflex. Her cognitive development was normal, and no associated neurologic dysfunction of the limbs was noted. On follow-up, the child experienced two episodes of seizures at 6 years of age. magnetic resonance imaging of the brain demonstrated perisylvian and frontal polymicrogyria. Clinical and radiologic findings demonstrated a similarity and continuum between congenital suprabulbar paresis (Worster-Drought syndrome) and perisylvian syndrome.- - - - - - - - - - ranking = 0.29157654788421keywords = seizure (Clic here for more details about this article) |
5/39. Early ictal speech and motor inhibition in fronto-mesial epileptic seizures: a polygraphic study in one patient.OBJECTIVE: To investigate ictal motor inhibition occurring during seizures in a patient with a tumor located in the left fronto-mesial pre-central cortex. methods: Awake and sleep video-polygraphic monitoring, recording scalp EEG and EMG activities from several cranial, trunk and limbs muscles, was performed in a patient with drug-resistant recurrent focal motor seizures before surgical treatment. speech/motor tasks were repeatedly administered to the patient during the recording sessions in order to evaluate the occurrence of early ictal motor inhibition. RESULTS: Thirty-four seizures were recorded during wakefulness showing a stereotyped pattern of inhibition of speech and voluntary movements followed by sequential activation of upper limb-trunk-lower limb muscles contralateral to the tumor. Polygraphic recordings showed that: (1) initial speech and motor arrest were associated with the EMG evidence of progressive muscle tone suppression in cranial and right distal upper limb muscles; (2) tonic contraction of right deltoid, biceps brachii, intercostalis and paraspinalis muscles appeared after motor inhibition; (3) tonic-clonic activity in the right tibialis anterior muscle occurred at the end of seizures. Eleven subclinical seizures were recorded during sleep showing mild focal tonic EMG activity in right side trunk muscles. CONCLUSIONS: Our findings evidenced early and somatotopically organized inhibition of voluntary movement at the beginning of epileptic seizures with fronto-mesial onset. The demonstration that speech and motor arrest were associated with progressive EMG suppression in cranial and limb muscles supports the hypothesis of motor inhibitory seizures originating in the mesial aspect of pre-motor frontal cortex.- - - - - - - - - - ranking = 5.2915765478842keywords = epileptic, seizure (Clic here for more details about this article) |
6/39. Expressive aprosody and amusia as a manifestation of right hemisphere seizures.PURPOSE: Aprosody and amusia are disorders commonly associated with right hemisphere abnormalities. They are regarded as negative phenomena and usually seen after strokes. We report a case of a patient who had both expressive aprosody and amusia as a clinical manifestation of right temporooccipital seizures. methods: A 43-year-old woman had a 1-month history of monotonic speech and difficulty singing. Her examination revealed both expressive aprosody and amusia. magnetic resonance imaging of the head was normal, but her EEG revealed several electrographic seizures of right temporooccipital origin. RESULTS: Treatment with phenytoin (PHT) almost immediately caused her speech and singing to return to baseline. A repeated EEG was normal CONCLUSIONS: seizures of right temporooccipital origin can manifest with expressive aprosody and amusia.- - - - - - - - - - ranking = 1.7494592873052keywords = seizure (Clic here for more details about this article) |
7/39. Reversible language regression as an adverse effect of topiramate treatment in children.Profound language regression developed in three children with epilepsy 4 to 28 weeks after beginning topiramate (TPM). TPM was administered as an adjunctive antiepileptic drug at doses of 2.5 to 6.0 mg/kg/day. language functions recovered while TPM was being reduced in dose or stopped.- - - - - - - - - - ranking = 0.84643206245126keywords = epilepsy, epileptic (Clic here for more details about this article) |
8/39. speech delay due to a prelinguistic regression of epileptic origin.A 2-year-old boy presented with an early form of benign partial epilepsy with centro-temporal spikes (BCERS) and a severe speech delay. family video analysis revealed an early regression of babbling and stagnation since the age of 12 months. Complete recovery occurred with anti-epileptic treatment. The deficit corresponded to a transient speech apraxia attributed to an epileptic disconnection of networks coordinating speech articulation. This observation is, to the best of our knowledge, the first demonstration that delayed emergence of language can be due to an epileptic dysfunction interfering with prelinguistic skills and therefore mimicking a developmental delay.- - - - - - - - - - ranking = 3.3475134878408keywords = epilepsy, epileptic (Clic here for more details about this article) |
9/39. Functional MRI study of verbal fluency in a patient with subcortical laminar heterotopia.RATIONALE: Double cortex syndrome is a malformation in which there is a band of subcortical heterotopic grey matter separated from the cortex by white matter. The functional activity of the heterotopic neurons is unclear. PATIENT: A 13-year-old female was evaluated for seizures. The EEG showed bifrontal spike wave disturbance. Band heterotopia, in association with mild reduction of sulcation of the cerebral hemispheres, was found on MRI. Psychological assessment indicated the presence of variable cognitive abilities, with verbal IQ [82] generally better than nonverbal IQ [59], and specific difficulties in language comprehension and mathematics. METHOD: Functional MRI was used to localize the areas of language and motor activation. The language activation paradigm was a visual verb generation task with a visual fixation baseline. The motor paradigm consisted of alternating blocks of sequential finger tapping and rest. Coronal functional and anatomical images were obtained. RESULTS: The motor paradigm produced activation of the primary motor cortex, the band heterotopia and the supplementary motor cortex. The language paradigm produced activation of the left inferior frontal gyrus and left supplementary motor area, but not of the band heterotopia. CONCLUSIONS: The activation of heterotopic grey matter during a motor task demonstrates a hemodynamic association with motor activity and suggests that this tissue may be functional. Such association was not seen with the language task. We speculate that later maturing functions such as language are restricted in their development to the normal situated superficial cortex in our patient.- - - - - - - - - - ranking = 0.29157654788421keywords = seizure (Clic here for more details about this article) |
10/39. Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits.The purpose of this study was to clarify the neurophysiologic basis of oromotor deficits in a patient with atypical rolandic epilepsy. We investigated magnetoencephalographic analysis of rolandic discharges with right predominance before and during clonazepam therapy. Before clonazepam administration, current sources of rolandic discharges were broadly distributed in the secondary sensory cortex, superior temporal gyrus, and parietal association area in addition to hand and orofacial division of the primary somatosensory cortex. During clonazepam therapy, oromotor deficits were improved, along with a decrease in rolandic discharge, and current sources of residual right-sided rolandic discharges were shifted to the right superior parietal lobule. Taking the clinical course and magnetoencephalographic findings together, the distributed rolandic discharge focus might be closely related to oromotor deficits, and clonazepam was effective for the disorder.- - - - - - - - - - ranking = 2.1479257910984keywords = epilepsy (Clic here for more details about this article) |
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