Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 150 consecutive cases of simple partial epilepsy significant CT abnormalities were found in 68%. The commonest lesion noted was a hypodense lesion on unenhanced scan, with a ring or disc-like enhancement on contrast scan, and surrounding hypodensity. This lesion was seen in 39 cases and was more common in patients below the age of 15 years and in those with shorter duration of fits (less than 6 months). Nineteen of these cases had focal signs, 16 showed focal slow activity on EEG and 17/39 had neither signs nor focal slowing on EEG. Ten cases with a ring or disc enhancing lesion had evidence of tuberculosis elsewhere in the body, three more had a past history of tuberculosis and four others had a history of close contact with a case of tuberculosis. After 3 months of antitubercular treatment, 23 out of 25 patients who were rescanned showed clearing of the lesion. The two who did not were operated upon, and the lesion was shown histologically to be a tuberculoma. Ten other cases have done well, but have not been rescanned. Only one case was not treated with antitubercular therapy. She developed fits, altered consciousness, and meningitis and recovered from this serious illness after starting antitubercular therapy. Though not histologically verified, it seems justified to conclude that in India a ring or disc enhancing lesion is the commonest accompaniment of focal epilepsy, and that at least one third (and probably more) of these lesions are tuberculomas.
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PMID:Focal epilepsy in India with special reference to lesions showing ring or disc-like enhancement on contrast computed tomography. 311 75

Surgery for an area of focal cortical dysplasia in a critical region is reported in a right-handed female manifesting intractable focal epilepsy and verbal cognitive deterioration. She developed the first seizure at 2 years of age and was treated with phenytoin and zonisamide, with good control until 10 years of age. Although seizures did not occur at 9 years of age, she manifested dyscalculia, right-left disorientation, and finger agnosia, and N-isopropyl-p-iodoamphetamine single-photon emission computed tomography (SPECT) revealed focal hypoperfusion in the left parietal lobe. At 11 years of age, she developed regular nocturnal seizures and gradually lost the ability to understand the meaning of sentences. Verbal IQ declined from 94 to 63, and the area of hypoperfusion detected by interictal N-isopropyl-p-iodoamphetamine SPECT spread over the left parietotemporal lobes. Magnetic resonance imaging revealed focal cortical dysplasia mainly in the left parietal lobe, and ictal technetium-99m-ethyl cysteinate dimer SPECT images demonstrated an area of hyperperfusion around the focal cortical dysplasia, including the left precentral gyrus. Because of the overlap between the epileptogenic and functional cortex, the authors concluded that cortical resection, including focal cortical dysplasia, was inappropriate in this patient.
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PMID:Cognitive deterioration associated with focal cortical dysplasia. 1002 67

A 19-year-old woman complained of long-standing, frequent, debilitating brusque movements triggered by unexpected stimuli. She was neurologically normal and neuroimaging was also normal. Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was normal, the ictal recordings doubtful; clinically, the startle reaction was asymmetric, with elevation of the left limbs. The diagnosis of hyperekplexia and startle epilepsy were discussed. We learned that she had been evaluated at age 3-4 months for spontaneous, generalised tonic-clonic seizures and "infantile spasms", in fact for early-onset startle reactions triggered by noise or contact, in association with prominent EEG changes. A full remission had been achieved under ACTH therapy, but the startle reactions had reappeared at around age six. The patient was successfully treated with carbamazepine. The history, clinical and neurophysiological data led us to discuss the diagnosis of hyperekplexia and startle epilepsy. We concluded that the patient had an unusual form of cryptogenic focal epilepsy originating from the supplementary motor area, presenting as strictly stimulus-triggered "flash" seizures.
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PMID:Startle response: epileptic or non-epileptic? The case for "flash" SMA reflex seizures. 1131 16

The differential diagnosis between panic disorder and focal epilepsy may sometimes pose a serious challenge. We report the case of a 32-year-old woman who complained of paroxysmal episodes of acute anxiety that evaded diagnosis for 8 years. Standard EEGs and brain CT scan showed no clear pathologic findings. Antidepressants, support psychotherapy and several courses of antiepileptic drugs were not beneficial. She was referred to our centre for a comprehensive diagnostic assessment. Clinical and standardized personality assessment did not reveal the personality organization typically associated with proneness to develop phobic anxiety disorders. Also, agoraphobic avoidance was absent, and the patient's main worries during the episodes involved negative social judgments rather than health. A brain MRI revealed a slightly increased signal at FLAIR images in the right amygdala. Video-EEG monitoring was decisive in establishing the diagnosis of drug-resistant right mesial temporal lobe epilepsy. Anteromesial temporal lobectomy was offered and successfully performed. Pathological examination of removed brain tissue revealed amygdalar sclerosis and mild hippocampal neuronal loss. At a 6-month follow-up visit, the paroxysmal episodes had completely disappeared. Depression, anxiety and quality of life were markedly improved. This case suggests that focal epilepsy should be considered in patients with paroxysmal episodes of anxiety, especially if dissociative symptoms and atypical clinical features for panic disorder are present, and if there is no satisfactory response to adequate trials of medication and psychotherapy within one year. A careful psychopathological analysis rather than a descriptive enumeration of symptoms is needed to bring these features to light. In such cases, even if routine EEGs or MRI are inconclusive and there is no response to antiepileptic drugs, it would be advisable to perform video-EEG monitoring to rule out partial seizures.
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PMID:Partial seizures due to sclerosis of the right amygdala presenting as panic disorder. On the importance of psychopathological assessment in differential diagnosis. 1733 38

Wicket spikes (WS) are a normal variant EEG pattern that sometimes can be mistaken for epileptiform activity. We present a patient with WS and idiopathic generalized epilepsy who had been wrongly diagnosed with focal epilepsy, which leads to the prescription of carbamazepine with severe aggravation of generalized tonic-clonic seizures. She was referred for presurgical assessment of refractory focal epilepsy but long-term video-EEG showed sharp theta waves over the temporal regions during awakening, with a typical aspect of WS during drowsiness, nREM sleep stages I-II, and rapid eye movements (REM) sleep. There were a few generalized spike-waves during sleep but interictal changes were increased in frequency at awakening with bursts of fast-generalized spike-waves. Carbamazepine was progressively withdrawn and the patient was progressively switched to zonisamide. The patient no longer complained of generalized tonic-clonic seizures. At one year follow-up, this patient receives zonisamide with valproate. She has remained seizure-free.
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PMID:Wicket spikes misinterpreted as focal abnormalities in idiopathic generalized epilepsy with prescription of carbamazepine leading to paradoxical aggravation. 1971 64

Autism is a strong genetic disorder, with an estimated heritability greater than 90%. Nonetheless, its specific genetic aetiology remains largely unknown. Autism is associated with epilepsy in early childhood and epilepsy occurs in 10-30% of individuals with autism. Here we report the case of a woman affected by a severe epileptic disorder with an onset at 14 years old. She is affected by a cryptogenetic focal epilepsy with complex partial (psychomotor) and secondarily generalized tonic-clonic seizures, which are drug resistant. The woman is married to a healthy man and has six children: two girls are healthy, a girl and two boys are affected by autism while one boy shows partial seizures. The three children with autism show moderate mental retardation and an EEG with no epileptiform alterations. The child with epileptic seizures shows an asymmetric EEG that is not necessarily pathological. In this family, no chromosomal rearrangements were detected by means of classical cytogenetic analyses. The presence of FRAXA alterations and of microdeletions of the 15q11-q13 chromosome region were also excluded. A genome-wide linkage analysis using microsatellite markers revealed several chromosome regions as possible susceptibility loci.
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PMID:Clinical and genetic evaluation of a family showing both autism and epilepsy. 2015 87

We report on an otherwise healthy infant who presented with clusters of alternating central facial nerve paresis. At 11 months of age, the patient showed intermittent facial asymmetry compatible with right-sided upper motor neuron facial paresis and accompanying incomplete upper motor neuron hypoglossal paresis. Laboratory work-up and imaging studies did not reveal signs of infection, infarction or structural lesions, and after one week, symptoms spontaneously resolved. Similar episodes affecting alternate sides were noted at ages of 17, 27 and 49 months lasting for 4-14 days. At 49 months, EEG showed right temporo-occipital benign sharp waves with activation during drowsiness and sleep. A diagnosis of benign focal epilepsy with negative motor phenomena was made. She is now 60 months old and no further episodes have occurred without antiepileptic treatment. Ictal orofacial phenomena are the clinical hallmark of benign focal epilepsy with centro-temporal sharp waves (BECTS). As in our patient, negative epileptic motor phenomena frequently lead to a broad diagnostic work-up. In infants presenting with episodic central facial nerve paresis, the possibility of negative epileptic motor phenomena should be considered.
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PMID:Recurrent upper motor neuron facial weakness of possible epileptic etiology: a case report. 2144 16

Levetiracetam is a commonly prescribed antiepileptic drug, and is generally well tolerated, but can eventually cause behavioral disturbances. These disturbances seem more frequent in children and in patients with a previous psychiatric history. We report on reversible autistic regression induced by levetiracetam in a 6-year-old girl with spastic cerebral palsy, mild cognitive deficiency, and focal epilepsy. She was diagnosed with pervasive developmental disorder, and demonstrated mild to moderate impairment in pragmatic language and interactions with peers. After the introduction of levetiracetam, she developed stereotypies, and her social and communicative skills deteriorated severely. She also exhibited mood lability. When the medication was discontinued, a dramatic response occurred, with a complete resolution of new abnormal findings. Levetiracetam can provoke unusual behavioral adverse effects in certain patients who are biologically more vulnerable.
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PMID:Levetiracetam-induced reversible autistic regression. 2270 22

The coexistence of focal and idiopathic generalized epilepsy (IGE) is rarely observed, and the mechanism underlying this situation remains unknown. We report a 13-year-old girl with well-controlled generalized epilepsy and medically-refractory left temporal lobe epilepsy. She underwent intracranial EEG recording, which demonstrated two characteristic seizure patterns of generalized ictal onset and left mesial temporal onset. In addition, two types of interictal spike distribution, including the left mesial temporal region and generalized spikes, were also supportive of the coexistence of left mesial temporal lobe epilepsy and IGE. Thereafter, a left anterior temporal lobectomy and post-surgical medication significantly improved her seizure outcome. This case illustrates the importance of considering surgical management for patients with medically-intractable focal epilepsy coexisting with generalized epilepsy.
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PMID:Surgically proven coexistence of focal and generalized epilepsy: a case report. 2322 Apr 54

Parry-Romberg syndrome is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on one side of the face. It is associated with neurological disorders such as trigeminal neuralgia, facial paresthesia, headache, and focal epilepsy. Concomitant occurrence of discoid lupus erythematosus (DLE) and morphea in the same skin lesion is exceptional, defined as overlap syndrome with two or more different connective tissue disease concurrently or consecutively. A 32-year-old female developed DLE on a long-standing lesion of scleroderma over left temporal area with characteristics histopathological changes. She was treated with oral antimalarials and steroids which halted the progress of the disease.
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PMID:Parry-romberg syndrome: a linear variant of scleroderma with discoid lupus erythematosus on scalp - an association. 2519 Oct 42


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