Cases reported "Epilepsy"

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1/72. epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.

    Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainstem atrophy, and epilepsy. These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appearance of Kabuki make-up syndrome and partial epilepsy who demonstrated polymicrogyria on neuroimaging. This article is the first report of a gyration disorder in Kabuki make-up syndrome. The relationship between epilepsy and polymicrogyria in this patient is discussed.
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2/72. Potential hepatotoxicity of lamotrigine.

    Lamotrigine is a new antiepileptic drug that is effective for a broad range of seizures in adults and children. Three children with seizures of different causes who were treated with lamotrigine and developed reversible hepatotoxicity are reported. In one child, this therapy led to relatively severe hepatic failure that required and responded to aggressive therapy. Unlike most of the previously reported six patients with similar severe hepatic involvement, this patient's liver function and blood hepatic enzymes became normal. All three patients were on multiple drugs, and two were in epilepsia partialis continua secondary to encephalitis. Two of the patients had relatively rapid medication titration schedules. The close time relationship between the initiation of the lamotrigine therapy and the reversal of the liver abnormalities with lamotrigine discontinuation argues against a cause other than the lamotrigine; however, because of the complexity of the reported cases, the causality remains an assumption. review of the literature revealed six other previously reported patients (five adults and one child) who had hepatotoxicity during lamotrigine therapy, with or without associated multisystem failure, and similar patient profiles. Lamotrigine is generally a safe and effective medication; however, it should be used with caution in patients on polytherapy and in those with complicated acute systemic and central nervous system conditions, such as fever, status epilepticus, epilepsia partialis, and encephalitis.
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3/72. Toxoplasmic encephalitis in patients with acquired immunodeficiency syndrome--four case reports.

    Four patients, all males aged 40-64 years, presented with toxoplasmic encephalitis associated with human immunodeficiency virus (hiv) infection manifesting as nonspecific neurological deficits such as epilepsy or hemiparesis. magnetic resonance imaging showed single or multiple lesions with ring enhancement, mimicking metastatic brain tumor or brain abscess. Marked eosinophilia was noted in three patients. Two patients who received anti-toxoplasma chemotherapy in the early stage had a good outcome. However, the other two patients suffered rapid neurological deterioration and needed decompressive surgery, resulting in a poor outcome. toxoplasma diffusely infects the whole central nervous system from the early stage. The outcome for patients who needed emergency surgery was poor. Therefore, this rare but increasingly common infectious disease must be considered in the differential diagnosis of a patient with neuroimaging findings similar to those of metastatic tumor or brain abscess. Appropriate chemotherapy should be started immediately after hiv-positive reaction is identified in patients with single or multiple mass lesions with ring enhancement.
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keywords = nervous system
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4/72. Central hyperventilation related to administration of topiramate.

    Topiramate is a recently released antiepileptic agent used in the treatment of patients with refractory seizure disorders. In addition to its antiepileptogenic activities, it results in inhibition of carbonic anhydrase isoenzymes II and IV, which are present in the central nervous system. A 15-year-old female who presented with hyperpnea and primary respiratory alkalosis is reported. Other possible etiologies of the central hyperventilation syndrome were excluded. The problem resolved within 24 hours after discontinuing topiramate.
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ranking = 1
keywords = nervous system
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5/72. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.

    Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.
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ranking = 2
keywords = nervous system
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6/72. central nervous system superficial siderosis, headache, and epilepsy.

    Almost 95 cases of superficial siderosis of the central nervous system have been reported in the literature. These patients showed a clinical syndrome characterized by ataxia, deafness, pyramidal system involvement, and mental deterioration with xanthochromic cerebrospinal fluid and neuroradiological findings of hemosiderin deposits. About 30% of the patients had headache as an accompanying symptom. In the present case report, we describe a 33-year-old man with the typical clinical features of superficial siderosis, who complained, since aged 8, of a severe recurrent frontal headache often associated with loss of consciousness occurring after at least 2 hours of pain. The MRI and CSF findings were consistent with subarachnoid bleeding. In our patient, headache due to meningeal irritation by subarachnoid blood induced seizures as a probable reflex of extreme pain. carbamazepine and nimodipine prophylaxis dramatically reduced the frequency of headaches and seizures.
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keywords = nervous system
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7/72. Neurocutaneous melanosis and psychosis: a case report.

    The paper describes a case of neurocutaneous melanosis (NM), with mental retardation, chronic psychosis, and epilepsy possibly due to a temporal focus. This is the first report of NM associated with a severe and chronic psychosis. It is likely that such an association has not previously been described because of the ominous prognosis of most cases of NM with early involvement of the central nervous system.
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ranking = 1
keywords = nervous system
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8/72. Familial continuous motor unit activity and epilepsy.

    A mother and son both had muscle stiffness due to continuous generalized muscle twitching, beginning in childhood and associated with epileptic seizures. electromyography (EMG) showed continuous motor unit activity (CMUA) at rest, which decreased during ischemia, sleep, and carbamazepine treatment, and was abolished by anesthetic nerve blockade. Genetic analysis disclosed a G724C point mutation in the potassium channel KCNA1 gene. The electrophysiological data suggested pathological impulse generation in both the peripheral and central nervous system, probably related to abnormal ion channel function.
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ranking = 1
keywords = nervous system
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9/72. Neurocutaneous melanosis with epilepsy: report of one case.

    Neurocutaneous melanosis is a rare congenital syndrome characterized by the association of large or multiple congenital melanocytic nevi and benign or malignant melanotic tumors in the central nervous system. patients with neurocutaneous melanosis usually have neurological symptoms early in life that progress rapidly due to the development of increased intracranial pressure or malignant melanoma. We report a 2-month-old female infant with multiple congenital melanocytic nevi and frequent seizure attacks. magnetic resonance imaging of the brain demonstrated several regions compatible with melanotic deposits. During follow-up for one year, she had normal development and was seizure-free under the treatment of phenobarbital and valproic acid. We suggest that infants with large or multiple congenital melanocytic nevi should receive regular clinical check-up and brain imaging to exclude the possibility of central nervous system lesions.
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ranking = 2
keywords = nervous system
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10/72. Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.

    The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.
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ranking = 1
keywords = nervous system
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