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)

A 9-year-old right-handed girl was admitted because of complex partial seizures, left-right disorientation and finger agnosia. At the age of 2 years, she began to have seizures, which were exacerbated by carbamazepine and diazepam. Subsequently she was treated with phenytoin and phenobarbital, and remained seizure-free for four years. After age 7, she began to have attacks of alteration of consciousness, which lasted 10 seconds and occurred every two or three months. At age 9, neuropsychological testing revealed borderline intellectual functioning (WISC-R:FSIQ 83, VIQ 94, PIQ 73), but selective deficits were found in tests of calculation and spatial-figural relationships. Axial spin echo (3,000/22) image showed an abnormal high signal intensity in the left temporo-parieto-occipital lobe, in which interictal IMP-SPECT demonstrated decreased cerebral blood flow. These results seemed to explain the relationship between clinical findings and focal migration disorder. It is important to detect a focal migration disorder in patients with intractable focal epilepsy or higher cortical dysfunctions.
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PMID:[Higher cortical dysfunctions and image diagnosis in a 9-year-old girl with complex partial epilepsy caused by focal neural migration disorder]. 761 91

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

Relapsing polychondritis (RP) is a rare, generalized autoimmune disorder that is characterized by recurrent inflammation of various cartilaginous structures. Involvement of the central nervous system is rarely observed in RP. Here we report a case of encephalitis associated with RP. A 60-year-old man presented with headache and bilateral ear swelling. Three weeks later, he came to our hospital because of the acute onset of a speech impediment. A non-contrast computed tomography scan of the head showed slight high-density areas in his left frontal lobe, but he refused to be admitted and went home. On the next day, he developed acalculia, agraphia, right-left disorientation, and mild right hemiparesis. Brain MRI revealed hyperintensity areas in the left frontal sulcus on fluid-attenuated inversion recovery (FLAIR) images, and these hyperintensity areas were enhanced by gadolinium. Therefore, the patient's symptoms were diagnosed as focal epilepsy caused by meningoencephalitis. Other examinations, including laboratory blood tests, cerebrospinal fluid tests, and a cerebral angiography, were all negative. Therefore, a brain biopsy of the left frontal cortex was performed 5 days after the patient's admission. Pathological findings revealed chronic inflammation of the meninges, so prednisone was administered. After receiving oral prednisone, the patient's bilateral ear swelling dramatically improved and the lesions apparent on cranial MRI gradually subsided. The patient was diagnosed with RP by a neurologist after discharge from the hospital. In this study, early diagnosis and steroid treatment is recommended for patients with neurological complications due to RP.
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PMID:[Relapsing polychondritis presenting as encephalitis]. 2239 54

Two patients who shared similar presenting clinical features of anterograde and retrograde autobiographical amnesia typical of transient epileptic amnesia (TEA) underwent prolonged video electroencephalogram (VEEG) monitoring and were found to have sleep-activated epileptiform activity and frequent subclinical bitemporal seizures predominantly during sleep. Case 1 is a 59-year-old woman whose presenting complaint was memory impairment. Over 18 months, she had three distinct 8-h-long episodes of confusion and disorientation with persistent anterograde and retrograde autobiographical amnesia. VEEG recorded frequent interictal bitemporal sharp waves confined to sleep, and 14 subclinical seizures, also mostly during sleep. Case 2 is a 50-year-old woman with known focal epilepsy also presented with memory complaints. Over the course of 1 year, she had two discrete 2-h-long episodes of amnesia, with ongoing anterograde and retrograde autobiographical amnesia. VEEG recorded independent bitemporal sharp waves, and 14 subclinical seizures during sleep and drowsiness. Memory impairment improved in both patients with successful treatment of their seizures. Although the etiology of accelerated long-term forgetting (ALF) and remote memory impairment (RMI) in transient epileptic amnesia (TEA) is unknown, these cases suggest frequent sleep-related seizures may contribute, and they highlight the importance of video-EEG monitoring.
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PMID:Frequent sleep-related bitemporal focal seizures in transient epileptic amnesia syndrome: Evidence from ictal video-EEG. 2958 54

Since lacosamide was approved as an adjuvant agent for the treatment of medically refractory focal epilepsy over ten years ago, it is becoming more widely used for the treatment of idiopathic (genetic) generalized epilepsies. Several studies have demonstrated efficacy in reducing primary generalized tonic-clonic seizures (GTCS), but efficacy is less well-characterized for myoclonic and absence seizures. A 29-year-old man with juvenile myoclonic epilepsy and medically refractory GTCS on a combination of levetiracetam and topiramate was started on lacosamide adjunctive therapy with the plan to replace topiramate. While his GTCS became controlled, he was witnessed to have confusional episodes, with waxing and waning responsiveness, lasting a few days, several times a month. After eight months of adjunctive lacosamide therapy, he was admitted to the epilepsy monitoring unit, where paroxysms of generalized spike-and-wave complexes, lasting for 30-90 minutes, were recorded, interrupted only by sleep. During these periods, he demonstrated psychomotor slowing and disorientation on examination. The absence status was successfully broken by lorazepam, and lacosamide was discontinued. The patient had no further confusional episodes at the most recent follow-up visit, four months after discharge.
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PMID:Absence status induced by lacosamide adjunctive therapy. 3078 79