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

Magnetic resonance imaging (MRI) studies of 46 patients with West syndrome (WS) of unknown etiology were reviewed retrospectively. The criteria for cryptogenic WS were met by 25 and 21 were considered symptomatic because other types of seizure or psychomotor retardation were apparent before spasm onset. Computed tomographic (CT) scans were normal in 38 patients and showed diffuse atrophy in eight symptomatic patients. In five patients, MRI was more informative than CT, demonstrating one case of delayed myelination and four cases of focal lesion. The focal lesion in 2 of these patients was similar on MRI consisting of poor gray-white matter demarcation in the parieto-occipitotemporal region. Surgical resection was performed in one because of intractable seizures, and neuropathological examination revealed cortical dysplasia. The remaining two cases with focal lesion had increased signal intensity on T2-weighted images in the posterior frontal cortex and in the temporal lobe, respectively. Our data indicate that MRI is useful in some cases of WS, especially in demonstrating focal corticosubcortical lesions not visible on CT scan.
 ...
PMID:Value of magnetic resonance imaging in West syndrome of unknown etiology. 833 May 81

The electroencephalographic/video recordings of 955 spasms in children with cryptogenic and symptomatic West syndrome (WS) were reviewed to define the relation between a clinical manifestation of a spasm and its EEG pattern, and to examine whether these features reflect the etiology and prognosis of WS. The review confirmed the spasm to be a distinct type of seizure, with a unique clinical and EEG pattern unlike that of all other recognized seizures. Symmetric spasms were present in cryptogenic and symptomatic patients. In contrast, asymmetric spasms, or focal signs recognizable during a spasm, strongly indicated the existence of a cerebral lesion. In both etiological groups, the characteristic ictal EEG pattern of the spasms consisted of a positive-vertex slow wave. The other two patterns apparently correlated to a spasm, were fast activity, here called spindle-like, and decremental activity. The fast activity corresponded to a clinical stare, and the decremental activity, when present, represented a postictal event. Although it was independent from the etiology of the spasms, persisting hypsarrhythmia during a cluster of spasms appeared to be an EEG pattern that correlated with a favorable outcome.
 ...
PMID:Ictal clinical electroencephalographic findings of spasms in West syndrome. 833 May 77

We analyzed electroclinical seizures observed by long video split-screen recording in 21 patients with Lennox-Gastaut syndrome (LGS). All patients had atypical absence seizures, 18 (81%) had tonic seizures, and 4 (21%) had myoclonic-atonic seizures. Tonic seizures were axial with flexion or extension of the head or trunk, or global with generalized tonic spasm mimicking infantile spasm, or involved the eyeballs only (either brief, with upward deviation of eyeballs or long, with oscillatory nystagmus). EEG showed either a bilateral 10-13-Hz rhythm or generalized synchronous spike wave at 3 Hz. Myoclonic-atonic seizures involving limbs, trunk, or neck were either brief or massive; the discharges were 2-3.5-Hz spike wave. Atypical absence seizures evolved gradually, terminated abruptly, and manifested alone or with subtle motor activity or oral automatism. EEG discharges were variable and of different types: (a) Diffuse irregular spike wave at 2-2.5 Hz with or without fragmentation (consciousness was regained during fragmentation or when spike wave discharges were < 2 Hz), (b) irregular diffuse fast activity at 10-13 Hz, or (c) a combination of fast spike wave or sharp waves of increasing amplitude followed by synchronous spike wave discharges at 3 Hz.
 ...
PMID:Electroclinical seizures in Lennox-Gastaut syndrome. 842 43

High-voltage electrical injuries may be devastating, with extensive burns, cardiac arrest, amputations, and long, complicated hospitalizations. Low-voltage injuries, after other pathologic and high-voltage sources are ruled out, tend to be rather benign acutely although they may have significant long-term morbidity, including chronic pain syndromes. Lightning injuries affect 800 to 1000 persons per year. In lightning injury, cardiac arrest is the main cause of death, burns tend to be superficial, ad injuries often are what one would expect of short-circuiting or overloading the body's electrical systems (tinnitus, blindness, confusion, amnesia, cardiac arrhythmias, and vascular instability). Although high-voltage injuries may require the services of trauma surgeons, in general, therapy for low-voltage and lightning injury is supportive and involves cardiac resuscitation for the more seriously injured and supportive care for the less severely injured. Long-term problems from sleep disturbances, anxiety attacks, pain syndromes, peripheral nerve damage, fear of storms (for lightning patients), and diffuse neurologic and neuropsychologic damage may occur in both electrical and lightning patients. Other sequelae--such as seizures or severe brain damage from hypoxia during cardiac arrest and spinal artery syndrome from vascular spasm--are indirect results of electrical and lightning injury.
 ...
PMID:Emergent care of lightning and electrical injuries. 857 Sep 29

Angiography has been considered to be the gold standard to judge the success of treatment for cerebral arteriovenous malformations (AVMs). Patients without residual nidus or early draining veins on postoperative angiograms are considered cured, with the risk of hemorrhage eliminated. A series of five patients with recurrent AVMs after negative postoperative angiography is described. All patients had hemispheric AVMs, presented initially with hemorrhage, and were between 5 and 13 years of age. Recurrence was noted 1 to 9 years later (at 12-16 years of age); after a hemorrhage in three patients, seizures in one, and on follow-up magnetic resonance imaging in one. Four patients underwent angiography that showed recurrence of the AVM at or adjacent to the original site. Three years postsurgery, the fifth patient died from a large intracerebral and intraventricular hemorrhage originating in the previous location of the AVM; however, the patient did not undergo angiography at the time of recurrence. The initial negative angiograms obtained postoperatively in these patients may be explained by postoperative spasm or thrombosis of a small residual malformation. However, in the authors' cumulative experience with 808 patients who have undergone complete surgical removal of AVMs (of whom 667 were older than 18 years of age), no case of recurrent AVM has been observed in an adult. Therefore, actual regrowth of an AVM may occur in children and could be a consequence of their relatively immature cerebral vasculature and may involve active angiogenesis mediated by humoral factors. The present findings argue against the assumption that AVMs are strictly congenital lesions resulting from failure of capillary formation during early embryogenesis. It is concluded that delayed imaging studies should be considered in children at least 1 year after their initial negative postoperative arteriogram to exclude a recurrent AVM.
 ...
PMID:Recurrent cerebral arteriovenous malformations after negative postoperative angiograms. 898 4

This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 12 different families in Southern Sardinia. This disorder is evident at birth and is characterized by marked muscular contraction of the facial muscles in response to tactile stimuli or during crying, with trismus and abundant salivation simulating a tetanic spasm. The contractions slowly disappear as the infant calms. There is also neck muscle hypertonia with a tendency to opisthotonus. All patients present facial anomalies such as large face, chubby cheeks, broad nose with anteverted nostrils, and long philtrum. The hands show bilateral camptodactyly. The clinical course in all patients was characterized by marked feeding difficulties and appearance of variable fever at about 38 degrees C, with peaks of irregular hyperthermia of over 42 degrees C, with onset ranging from birth to a few weeks. In some patients these symptoms were accompanied by generalized seizures. Death occurred after a period of a few weeks to some months and coincided with fever above 42 degrees C. Laboratory investigations performed in all of these cases did not give any useful pathogenetic indications. Only patients 10 and 16 are still alive today. Patient 10 is now 14 years old. She presents slow regression of the dystonic symptomatology, while dysthermia and mild psychomotor delay persist.
 ...
PMID:Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? 872 66

1. Mechanisms that regulate the cerebral circulation have been intensively investigated in recent years. The role of several vasodilator mechanisms has been examined in the cerebral circulation, including nitric oxide (NO), trigeminal peptides and potassium channels, as well as the potent vasoconstrictor endothelin. These mediators appear to play a role in physiological and pathophysiological responses of the cerebral circulation. In the present review, we will focus on some recent developments in each of these areas. 2. Nitric oxide is an important regulator of cerebral vascular tone. Tonic production of NO maintains the cerebral vasculature in a dilated state. NO appears to be an important vasodilator during activation of neurons by excitatory amino acids, somatosensory stimulation and cortical spreading depression. Tonic production of NO appears to be critical in vasodilatation during hypercapnia, although NO may not directly mediate vasodilatation. NO produced by immunological NO-synthase appears to be important in dilatation following exposure to bacterial endotoxin. 3. Calcitonin gene-related peptide (CGRP), released from trigeminal perivascular sensory nerves in the brain, is an extremely potent dilator of brain vessels. CGRP may limit noradrenaline-induced constriction of cerebral vessels and contribute to dilatation during hypotension (autoregulation), reactive hyperaemia, seizures and cortical spreading depression. 4. Activation of potassium channels leads to hyperpolarization of cerebral vascular smooth muscle and appears to be a major mechanism for dilatation of cerebral arteries. Agents that increase the intracellular concentration of cyclic 3' 5'-adenosine monophosphate (cAMP) produce vasodilatation in part by activation of large conductance calcium-activated potassium channels (BKCa) and ATP-sensitive potassium channels (KATP). Activation of both KATP and BKCa channels also appears to contribute to vasodilatation during hypoxia. In contrast to KATP channels, BKCa channels appears to be active under basal conditions, contributing to tonic dilatation of cerebral blood vessels. 5. Endothelin is produced in the brain, but its role in the physiological regulation of cerebral blood flow is not known. Endothelin may contribute to the spasm of cerebral arteries following subarachnoid haemorrhage.
 ...
PMID:Recent insights into the regulation of cerebral circulation. 880 May 65

Cholesterol granulomas of the head are relatively rare. Isolated lesions of the cerebellopontine angle are even more uncommon. In this report, 17 cases of petrous apex cholesterol granulomas are presented and management is discussed. Symptoms at presentation included dizziness (14 patients), pressure (nine patients), tinnitus (eight patients), hearing loss (eight patients), otalgia (six patients), headache (six patients), nausea (three patients), drainage from ear (two patients), facial pain (two patients), seizure (two patients), lightheadedness (one patient), hemifacial spasm (one patient), and facial numbness (one patient). Six cases were managed without surgery and 11 patients underwent operative procedures. The approaches used included the infralabyrinthine (eight patients), transcanal-infracochlear (two patients), and translabyrinthine (one patient). The mean follow-up period for all cases was 29.5 months. Of those patients managed without surgery, symptoms improved in all except one, whose tinnitus was slightly worse. Of surgically treated patients, symptoms improved or remained the same except in one with worsened dizziness. There were nine patients with hearing present presurgery and seven whose hearing was preserved postsurgery. The authors present a case that was managed at another center where an attempt at surgical resection through a subtemporal middle fossa approach was unsuccessful. This lesion was successfully treated using an infralabyrinthine approach with drainage into the mastoid cavity. Cholesterol granulomas of the petrous apex can be managed without surgery when symptoms are stable or improve. Otherwise, a transmastoid extradural approach with simple drainage into the mastoid sinus or middle ear produces symptomatic improvement with low morbidity. Resection of petrous apex cholesterol granulomas is not necessary.
 ...
PMID:Cholesterol granulomas of the petrous apex: combined neurosurgical and otological management. 881 66

The combination of West syndrome (WS) and Down syndrome appears not to be coincidental. Fourteen patients free of cardiac malformation or history of perinatal hypoxia were referred and investigated before they had received any treatment and were followed to the mean age of 4.5 years (range 19 months to 14 years). Spasms had onset at the mean age of 8 months (range 4-18 months) in cluster and were symmetrical. Hypsarrhythmia was symmetrical and, after intravenous diazepam (4 patients, 0.5 mg/kg) it disappeared, without any remaining focus. Recorded spasms during a cluster were "independent," with recurrence of hypsarrhythmia between successive spasms, and thus had the ictal and interictal EEG characteristics of idiopathic WS. Seven patients exhibited other types of seizures after WS, consisting of myoclonic jerks, atonic, tonic-clonic or absence seizures, which proved quite easy to control with valproate and/or ethosuximide.
 ...
PMID:Early clinical and EEG features of infantile spasms in Down syndrome. 882 96

Seventeen patients with subarachnoid cysticerci received albendazole at doses of 15 mg/kg/day for eight days. All patients also received corticosteroids during the trial. Evaluation of the therapeutic response consisted of the comparison of the number of cysts shown by CT before and three months after treatment, and the evaluation of the clinical status of the patients before and after the trial. Before treatment, the 17 patients had 30 subarachnoid cysticerci, 11 of which were > 50 mm in diameter. Seventeen cysts were located at the convexity of cerebral hemispheres, seven at the sylvian fissure, five at the ambiens cisterns, and one at the cerebellopontine angle cistern. Fourteen patients had seizures, 10 had hemiparesis, three were demented, one had diminution of visual acuity, and one had hemifacial spasm. Brain CT obtained after therapy showed resolution of 27 cysts (90% effectiveness). Fourteen (82%) patients had total resolution of all cysts. All but three patients were asymptomatic. Remaining deficits included hemiparesis in two patients and diminution of visual acuity in one. It is concluded that albendazole is an effective treatment for subarachnoid cysticerci as it causes disappearance of most lesions on CT, and produces considerable improvement in the clinical manifestations of the patients.
 ...
PMID:Albendazole therapy for subarachnoid cysticerci: clinical and neuroimaging analysis of 17 patients. 1008 55


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>