1/16. Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/16. Lennox-Gastaut syndrome after a further attenuated live measles vaccination.We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, when tonic seizures began on postvaccination day 14 without a preceding episode of continuous fever or any neurologic symptoms. The tonic seizures and atypical absence have been intractable as to various antiepileptic drugs, while his twin brother has experienced no epileptic seizures.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/16. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy. The etiology is multiple, with cerebral malformations as the more frequent. We review the clinical and video/EEG aspects of eight infants with EIEE. These infants, aged between 4 and 70 days at the time of video/EEG recordings, were studied in relation to their clinical and video/EEG characteristics, evolution, persistence of suppression-burst pattern and etiology. Seven of the eight infants showed an ictal clinical sign correlated to the burst of the suppression-burst pattern, four of whom died within 11 months of age. The other three are alive. One, now aged 4 years, underwent surgery for hemimegalencephaly and is seizure-free, with good neurological outcome. One, now aged 9 months, was pyridoxine-dependent and she is seizure-free, and with normal neurological evolution under pyridoxine therapy. One, now aged 3 years and 9 months, is seizure-free, but with severe neurological and cognitive impairment. The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits. With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. Our study confirms that EIEE is a severe age-dependent early epileptic encephalopathy. The etiology is mostly malformative. The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/16. Clinical and genetic analysis of a new multigenerational pedigree with GEFS (Generalized epilepsy with Febrile seizures Plus).Febrile seizures affect 2-5% of all children younger than 6 years. A small proportion of children with febrile seizures later develop epilepsy. The syndrome of generalized epilepsy with febrile seizures plus (GEFS ) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile seizures. Several genes have been localized for FS by linkage analysis, and three GEFS genes (SCN1A, SCN1B, GABRG2) have been identified. We identified a large multigenerational family with GEFS in france. All affected members had FSs. Among them, seven had other types of epileptic seizures including FSs after age 6 years, nonfebrile generalized seizures, or partial seizures later in life. genetic linkage study excluded the candidate genes and loci for FS and GEFS , thus proving the existence of a new GEFS genetic locus underlying the phenotype observed in this family.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/16. Focal motor seizures with secondary generalization arising in the cerebellum. Case report and review of the literature.The issue of whether seizures can arise in the cerebellum remains controversial. The authors present the first known case of focal subcortical epilepsy with secondary generalization thought to arise from a dysplastic lesion within the cerebellum. A newborn infant presented with daily episodes of left eye blinking, stereotyped extremity movements, postural arching, and intermittent altered consciousness lasting less than 1 minute. These episodes began on his 1st day of life and progressively increased in frequency to more than 100 events per day. Antiepileptic medications had no effect, and interictal and ictal scalp electroencephalography (EEG) recordings demonstrated bilateral electrical abnormalities. magnetic resonance imaging revealed a mass in the left cerebellar hemisphere, and ictal and interictal single-photon emission computerized tomography revealed a focal perfusion abnormality in the region of the cerebellar mass. The patient subsequently underwent intraoperative EEG monitoring with cortical scalp electrodes and cerebellar depth electrodes. Intraoperative EEG recordings revealed focal seizure discharges that arose in the region of the cerebellar mass and influenced electrographic activity in both cerebral hemispheres. Resection of this mass and the left cerebellar hemisphere led to complete resolution of the patient's seizures and normalization of the scalp EEG readings. Neuropathological findings in this mass were consistent with ganglioglioma. A review of the literature on the cerebellar origins of epilepsy is included.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/16. plasma cell granuloma involving the brain and the lung.BACKGROUND: Symptomatic plasma cell granulomas (PCG) of the central nervous system (CNS) are a rare entity, especially in association with an extracranial manifestation. CLINICAL PRESENTATION: A 13 years old boy was operated on for a symptomatic plasma cell granuloma of the lower lobe of the left lung. Four years later, he suffered his first generalized seizure. CT and MRI scans revealed a small hyperdense lesion, which was located in the right frontal lobe, adjacent to the motor strip. Intervention. Stereotactic guided surgery was performed. A plasma cell granuloma was found, which histopathologically resembled the intrapulmonary lesion, which had been removed four years ago. CONCLUSION: Histological findings, differential diagnosis and specific treatment are reviewed and discussed. patients with PCG should be radiologically staged. Long term prognosis of PCG is good in cases surgically resectable. Nevertheless, patients require lifelong follow up.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/16. Hypothalamic hamartoma and epilepsy in children: illustrative cases of possible evolutions.The progresses of neuroimaging have allowed an earlier detection of hypothalamic hamartoma in children presenting with gelastic or dacrystic seizures. Associated symptoms can include other types of seizures, precocious puberty, and behavioral or cognitive deterioration. Combination of all these features is not constant and, when present, their evolution may be variable. When epilepsy proves intractable, surgery may be a solution but is not without risks. Therefore, it can only be justified on the basis of a considerable degree of certainty on the progressive character of the disorder, both in terms of epilepsy and global development. Even though epilepsy is a major and usually the most important problem, it is not always possible to predict its course and to be able to evaluate its potential effects on development. Available data suggests that deterioration is partly related to the epileptogenic activity. We reviewed data from 16 personal cases and discussed the possible evolutions of the epilepsy syndrome on the basis of 6 illustrative cases and a review of the literature. We point out that seizures may start early in life and evolve either towards a catastrophic encephalopathy or may be transiently severe and will progressively settle down. Intermediate situations also exist as well as cases presenting with a mild epilepsy. In almost all cases cognitive difficulties are present and may be associated with behavioral disturbances. They are of variable severity, usually in relation to the severity of the epilepsy and the evolution of the EEG abnormalities. Some of our cases also illustrate that, in young children whose seizures are limited to "a sensation of a pleasant feeling", "a pressure to laugh" or "smiling", early detection of the hamartoma may still be difficult and the epilepsy pattern may be misdiagnosed as an epilepsy temporal or frontal origin. Detailed analysis of the electro-clinical evolution of representative cases highlights the variable expression of the epilepsy syndrome and renders difficult any dogmatic position on early surgery. However, recent data suggests that a surgical solution must be sought early. prospective studies are needed to evaluate, not only outcome in terms of control the seizures without unacceptable side effects but also on the evolution of the cognitive and behavioral profile of children with HH and epilepsy are needed.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/16. Impact of epilepsy on quality of life.epilepsy is a chronic condition with a profound effect on the quality of life. health, family life, social, community and civic activities, economics and personal development are the major variables associated with quality of life for the person with epilepsy. In this article, a model describing the relationship between these variables and quality of life is presented. This model organizes a comprehensive nursing approach to the patient with epilepsy. A case study analysis approach is used to help further illustrate interactions among the variables. nursing interventions based upon analysis of the model are suggested.- - - - - - - - - - ranking = 8keywords = life (Clic here for more details about this article) |
9/16. Fatal neurologic involvement in pediatric Wegener's granulomatosis.Wegener's granulomatosis is a potentially life-threatening vasculitis with widely variable presentation. Only three pediatric cases with severe central nervous system involvement are reported in the literature. Early fatal outcome as described here is exceptional. This report describes a 13-year-old female with typical skin lesions, proteinuria, and renal failure initially misdiagnosed as a Schoenlein-Henoch purpura. A kidney biopsy revealed severe extracapillary proliferation in 70% of the analyzed glomeruli but no granuloma. In spite of methylprednisolone pulse therapy and oral high-dose prednisone, end-stage renal failure was reached 4 months later, necessitating peritoneal dialysis. Three months later she presented with pulmonary hemorrhage and positive antineutrophil cytoplasmic antibodies suggesting Wegener's granulomatosis. This episode was controlled by methylprednisolone pulses. Seven months later she presented generalized seizures and coma, suggesting central nervous system involvement confirmed by magnetic resonance imaging. methylprednisolone pulses and intravenous immunoglobulins led to neurologic improvement. Oral methotrexate was then introduced for long-term disease control. Another severe relapse of central nervous system vasculitis did not respond to any applied therapies and led to death 16 months after initial symptoms. This case emphasizes the need for activity scores to identify patients at risk for progressive systemic vasculitis requiring early and long-term aggressive immunosuppressive therapy.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
10/16. A child with Friedreich's ataxia and epilepsy.epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine-adenine-adenine (GAA) triplet repeat expansion.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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