Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 22-year-old female with progressive myoclonus epilepsy (PME) considered to be due to hereditary dentato-rubro-pallido-luysian atrophy (DRPLA) was reported. Some of her family members showed progressive myoclonus, seizures, dementia, ataxia and choreoathetosis, with variation of onset from childhood to adult life, which suggested that they had been suffering from DRPLA. CT scan and MRI studies, including some on family members, revealed cerebral and cerebellar atrophy accompanied by dilatation of the fourth ventricle, compatible with the findings in DRPLA reported previously. We emphasize that a detailed family history may be essential in dealing with a PME patient and that DRPLA should be considered in the differential diagnosis of the PME syndrome with onset in childhood, in Japan.
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PMID:Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. 195 76

Leptomeningeal metastasis (LM) of systemic malignancy often give rise to multifocal involvement of the central (CNS) and peripheral nervous system. Signs of CNS dysfunction such as seizures and confusion often overshadow radicular deficits. We report clinical and laboratory evaluations in 10 patients with LM who presented with isolated polyradiculopathy. Our data suggest that electromyography and late response studies are sensitive indicators of radicular dysfunction in patients with LM. These studies are helpful in the early documentation of root involvement when computerized tomography, MRI and myelography are normal.
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PMID:Polyradiculopathy in leptomeningeal metastasis: the role of EMG and late response studies. 196 61

We reported a mild variant case of maple syrup urine disease. He was unable to walk alone at 2 years of age and developed seizures and intermittent ataxia at 5 years of age. Activity of 1-14C-leucine decarboxylase in fibroblasts revealed 40% of normal activity in the boy and 90% in the mother. MRI showed hypo-myelination of white matter and mild atrophy of brain stem and cerebellum. Dietary treatment was not effective for ataxia and brain atrophy.
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PMID:[A mild variant case of maple syrup urine disease]. 199 96

Eleven patients with intractable complex partial seizures underwent temporal lobectomy during their first decade. The mean age at onset of epilepsy was two years and at surgery was 5.5 years. On the basis of data from clinical evaluation, CT, MRI in six patients, and pathological examination of excised tissue, the aetiology of the epilepsy was thought to be mesial temporal sclerosis in four children, glioma in five, dysplasia in one and chronic progressive encephalitis in another. At follow-up eight children were seizure-free, two had reduced seizure frequency and only the child with chronic progressive encephalitis had not benefitted from surgery.
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PMID:Temporal lobectomy for the treatment of intractable complex partial seizures of temporal lobe origin in early childhood. 199 6

We report a case of a 7-year-old right-handed girl with neurocytoma in the left frontal lobe. She developed convulsive seizures on the right side of her face at the age of 1 year and 8 months, and CT scan revealed a low density lesion in the left frontal lobe near the Sylvian fissure. CT scan at the age of 7 years showed slight enlargement of the lesion in size, and linear calcification in the mass. MRI imaging revealed the lesion to be a solid mass involving the area of Brodmann 44 of the left cerebral hemisphere. However, amytal test disclosed that her speech center was not situated in the left cerebral hemisphere. Subtotal removal of the tumor and removal of the epileptogenic focus were performed and no neurological deficits including speech disturbance resulted. The tumor was diagnosed as neurocytoma by electron microscopy. Because this tumor was considered of low malignancy, no radiation or chemotherapy was given. It is emphasized that neurocytoma can occur in parts of the brain other than in the ventricular system, though the incidence of the tumor is more frequent in the latter.
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PMID:[Neurocytoma in the left frontal lobe]. 200 Jan 64

The aim of the present study was to evaluate the predictive value of interictal single-photon emission computed tomography (SPECT) using technetium-99m-labeled hexamethyl propyleneamine oxime (HMPAO) for the outcome after temporal lobectomy in patients with complex partial seizures. Out of 40 patients, 21 underwent right-sided and 19 left-sided temporal lobectomy. EEG and CT/MRI were primarily used to select the side of surgery. SPECT results correlated with temporal lobectomy in 68% of the patients. After surgical intervention, memory function was tested for both sides. Following left-sided temporal lobectomy, verbal memory was impaired in 8% of the patients, if SPECT agreed with the side selected for surgery, but in 83%, if it diverged from it. In the present study, there was no relationship between SPECT concordance with the side of temporal lobectomy and outcome as to seizure frequency and non-verbal memory. We conclude that preoperative interictal HMPAO/SPECT can contribute to the prediction of postoperative verbal memory function and that this method should be considered for use prior to temporal lobectomy.
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PMID:Technetium-99m-HMPAO brain SPECT in medically intractable temporal lobe epilepsy: a postoperative evaluation. 200 45

A 32-year-old primigravida showed signs of pre-eclampsia before delivery of a healthy boy at term. The CSF-space was accidentally punctured during epidural anaesthesia in labour. One day later hypertension was noted and the patient had a single generalized fit. For the next three weeks she had postural headaches, fluctuating hypertension, intermittent hearing loss and double-vision. On the 22nd day of postpartum, the patient had the first of a series of partial and later generalized seizures, followed by hemiparesis, alteration of consciousness, and finally slow recovery with corticosteroid therapy. Bilateral subdural effusions and generalized meningeal thickening were found on MR scans. Repeated MRI excluded sinus thrombosis and documented the response to treatment.
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PMID:Neurological cause of late postpartum seizures. 201 11

A Japanese girl with incontinentia pigmenti had characteristic skin lesions at birth. The diagnosis was confirmed by skin biopsy and positive family history. Her mother and sisters also suffered from IP. She had generalized tonic seizures at 1 month of age, and infantile spasms at 7 months. ACTH therapy was very effective to infantile spasms. At 9 years now, she is suffering from atypical absence, mild mental retardation and mild left hemiparesis. MRI revealed marked atrophy of the cerebral white matter predominantly around the posterior horn of right lateral ventricle, cystic lesions in the white matter around the anterior horns of both lateral ventricles, which were not clear by CT scan, and atrophy of the right cerebral peduncle and pontine basis. Although these findings are non-specific, they may be clues which explicate the mechanism of central nervous system involvement in incontinentia pigmenti.
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PMID:[Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis]. 204 71

The case is that of a 5-year-old male who was admitted to the hospital for a further examination because of the onset of seizure observed twice. He was delivered at full term by Cesarean section, and had had impairment of movement of his left hand since birth. The results of the first examination performed at the time of his admission to the hospital revealed mild neurological disturbance of the left hand. The CT scanning performed showed partial agenesis of the corpus callosum and a bicameral cyst enhancing the cystic wall extending from the right anterior horn of the lateral ventricle to the body. By MRI sagittal plane, cystic masses presented low signal intensity on the T-1 weighted image, and they showed high signal intensity on the T-2 weighted image. The coronal plane showed that the cysts extended from the midline of the ventricle to the lateral. Cystectomy was performed using the transventricular approach. Thus communication between the cyst and lateral ventricle was made possible. The cystic wall was macroscopically white and elastically soft, and contained vascular components. Histopathologically, it consisted of 3 layers of ciliated cuboidal epithelium, glia cells and connective tissue respectively. We diagnosed the condition as glio-ependymal cyst in the lateral ventricle complicated by partial agenesis of the corpus callosum.
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PMID:[Glio-ependymal cyst in the lateral ventricle complicated by agenesis of the corpus callosum]. 204 50

Cavernous angiomas, although rare, represent a clinical and a neuroradiological challenge in the differential diagnosis of cerebrovascular malformations. We report about three cases with a total of seven cavernous angiomas. Clinical features include intracerebral hemorrhage, epileptic seizures and focal neurological signs. Diagnosis is based on typical findings in MRI in combination with an angiography presenting a normal vascular situation or an avascular mass lesion, whereas CT-scan shows nonspecific features. Surgical removal is generally recommended, but could not be done in our cases. A histological verification of a clinically typical diagnosis is not mandatory. Indication for proton beam irradiation still has to be discussed. A definite therapeutical approach will have to consider the natural history in a larger number of cases.
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PMID:[Cavernous angiomas in the differential diagnosis of cerebrovascular malformations]. 205 87


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