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)

Interstitial 18q deletions encompassing band 18q12.3 define the del(18)(q12.2q21.1) syndrome. Usual manifestations are mild dysmorphic features, mental retardation, behaviour abnormalities and lack of serious malformation. Seizures have also been found. Recently, more specifically, impairment of expressive language has been reported. We report on two patients with de novo 18q interstitial deletions characterized by oligonucleotide array CGH. The smallest, a 5.3Mb deletion (35.7-40.9Mb) within band q12.3, was found in a 4-year-old girl who suffered mainly from expressive dysphasia. A larger 9.5Mb deletion (34.6-43.9Mb) was observed in a 20-year-old man with a more severe clinical picture including seizures and limited speech. Among the four genes located in the 5.3Mb region, RIT2 (Ras-like without CAAX 2) and SYT4 (synaptotagmin IV), both strongly expressed in the brain, are pointed out as likely candidate genes for language development.
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PMID:A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay. 2114 94

For a retrospective observational investigation based on real clinical practice of relative efficacy of valpoic acid (VPA), carbamazepine (CBZ) and topiramate (TPM) we have selected 106 patients with age of seizure onset before 17 years with a undoubted diagnosis of symptomatic or cryptogenic occipital lobe epilepsy (OLE), who had received treatment according to ILAE recommendations, and observation time since the last treatment change was from 2 to 10 years. Patients suspicious for idiopathic epilepsies were excluded. The groups of patient receiving CBZ, VPA and TPM did not differ significantly in presenting unfavorable prognostic factors and dose regimes that allowed to conduct direct comparison of efficacy of the investigated drugs. Efficacy of VPA in children with OLE was higher compared with CBZ (69% vs 36%, p < 0.01) and TPM (69% vs 8%, p < 0.001). CBZ and TPM caused seizure aggravation more frequently than VPA (12% and 13% respectively vs 1%, p < 0.001). In case of presence of clinico-electroencephalografic and MRI signs of significant organic brain damage and in patients with seizure onset under 11 years TPM was not effective. In case of focal cortical dysphasia the efficacy of CBZ was lower than VPA (20% vs 63%, p < 0.05). In MRI-negative cases VPA was most effective (79% vs 44% for CBZ, p < 0.001 and 29% for TPM, p < 0.01). Efficacy of CBZ and TPM reduces proportionally the number of previously used antiepileptic drugs (AEDs), this tendency is noted also for VPA but as a second AED it was more effective than CBZ and TPM (56% vs 15%, p < 0.01 and 14%, p < 0.05, respectively); as a first AED VPA was also most effective (82% vs 37%, p < 0.001 for CBZ and 82% vs 33%, p < 0.01 for TPM). Adverse effects were more frequent during treatment with CBZ and TPM, than VPA (21% vs 6%, p < 0.001 and 17% vs 6%, p < 0.05).
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PMID:[Comparative efficacy of carbamazepine, valproic acid and topiramate in symptomatic and cryptogenic occipital lobe epilepsy in children]. 2132 24

Primary angiitis of the central nervous system is a rare and difficult entity. Here we represented the clinical and pathological features of a patient with little response to steroid before definite diagnosis. The 50-year-old male had a fluctuating disease course for more than 3 years. He presented visual disorders, seizure, cognitive impairment, hypersomnia, unsteady gait, dysphasia, dysphagia, and incontinence. Magnetic resonance imaging showed multiple, supratentorial and infratentorial abnormal signals, while cerebrospinal fluid and cerebral angiography were normal. Magnetic resonance spectrum showed a decrease of N-acetyl-aspartate. Brain biopsy revealed nongranulomatous lymphatic vasculitis with reactive gliosis, cicatrization, demyelination and focal hemorrhages.
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PMID:Primary angiitis of the central nervous system: a case report. 2204 Apr 43

Childhood stroke is increasingly being recognized as an important burden not only for affected children and families, but also for socioeconomic reasons. A primary problem is delayed diagnosis, due to the many mimics of childhood stroke, and the variety of manifesting symptoms. The most important is hemiparesis (with/without dysphasia or facial palsy), but ataxia, seizures, and many more are also possible. Suspicion of stroke has to be ascertained by neuroimaging, gold standard being (diffusion weighted) magnetic resonance. Risk factors are multiple, but their presence might help to increase the suspicion of stroke. The most important factors are infectious/parainfectious etiologies, frequently possibly manifesting by transient focal cerebral arteriopathy (FCA). Cardiological underlying problems are the second most important. Arteriopathies can be detected in about half of the children, besides FCA and dissection and MoyaMoya disease are the most important. Hereditary coagulopathies increase the risk of stroke. There is still a controversy on best treatment in children: platelet antiaggregation and heparinization are used about equally. Thrombolysis is being discussed increasingly. Severity of symptoms at manifestation and on follow-up are not less significant in children than in young adults. About two-third of the children have significant residual neurological problems and a majority cognitive and behavior problems.
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PMID:A clinical approach to arterial ischemic childhood stroke: increasing knowledge over the last decade. 2243 Jan 54

The authors describe a case of L-asparaginase induced intracranial thrombosis and subsequent haemorrhage in a newly diagnosed 30-year-old man with acute lymphoblastic leukaemia who was successfully managed by surgical intervention. At presentation, he had a Glasgow Coma Score of 7/15, was aphasic and had dense right hemiplegia. Neuroimaging revealed an acute anterior left middle cerebral artery infarct with parenchymal haemorrhagic conversion, mass effect and subfalcine herniation. He subsequently underwent left frontal craniotomy and evacuation of large frontal haematoma and decompressive craniectomy for cerebral oedema. Six months postoperatively he underwent titanium cranioplasty. He had made good clinical recovery and is currently mobilising independently with mild occasional episodes of expressive dysphasia, difficulty with fine motor movement on the right side, and has remained seizure free. This is the first documented case of L-asparaginase induced haemorrhagic stroke managed by neurosurgical intervention. The authors emphasise the possible role of surgery in managing chemotherapy induced intracranial complications.
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PMID:Neurosurgical management of L-asparaginase induced haemorrhagic stroke. 2260 98

Steroid response encephalopathy associated with autoimmune thyroiditis (SREAT), or Hashimoto's encephalopathy, is a rare disorder believed to be immune-mediated. It is most often characterized by a subacute onset of confusion with altered level of consciousness, seizures, and myoclonus. We describe the case of a 48-year-old gentleman who presented with confusion and dysphasia. Specific clinical features and laboratory results led to a diagnosis of Hashimoto's encephalopathy. This case highlights the core features of this condition and the potential for complete response to steroid therapy.
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PMID:Steroid-responsive encephalopathy associated with autoimmune thyroiditis presenting as confusion, dysphasia, and myoclonus. 2275 74

Sternomanubrial dislocations are rare injuries. Although few cases of this injury have been reported in the literature, the etiology has varied widely: trampoline injury, seizures, falls from height, sporting injuries, gradual deformities from spine fractures, and motor vehicle collisions. This injury has been classified into 2 types: in type I, the sternal body is displaced posteriorly to the manubrium, and in the more common type II, the sternal body is displaced anteriorly. The sternomanubrial joint is an amphiarthroidal joint that bears hyaline cartilage on both surfaces connected by a fibrocartilage meniscus. It serves a protective role to vital thoracic structures and is an anterior stabilizing strut to the thorax, assisting the thoracic spine in upright stability. It is important to not ignore type I dislocations because posterior sternum displacement is a harbinger of injury to the pulmonary tree, heart, and esophagus. Chronic instability at this joint can lead to dyspnea and dysphasia due to sternum displacement. In the right scenario, type II injuries are occasionally treated conservatively with palliative treatment until the sternum heals with malformation. This article describes the case of a 20-year-old man who was treated surgically for symptomatic type II sternomanubrial dislocation with dual anterior locked plating. Locked plating gives the benefit of unicortical fixation, with the screws and plate acting as a unit to resist motion. Screw pullout and failure is less common, and the construct is more resistant for this application. The patient returned to full participation in activities of daily living and military duty 4 months postoperatively.
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PMID:Parallel plating for a sternomanubrial dislocation. 2286 20

We retrospectively reviewed clinical and imaging findings in 11 patients with stroke-like migraine attacks after radiation therapy (SMART) syndrome to better understand this disorder previously thought to be reversible. Six men and 5 women had complex bouts of neurologic impairment beginning, on average, 20 years after cerebral irradiation. All had characteristic, unilateral gyriform enhancement on MR imaging that developed within 2-7 days and typically resolved in 2-5 weeks. Unlike prior reports, 45% had incomplete neurologic recovery manifesting as dysphasia, cognitive impairment, or hemiparesis. The remaining 55% recovered completely over an average of 2 months. Three of 11 patients developed cortical laminar necrosis. Brain biopsies in 4 of 11 did not demonstrate a specific pathologic substrate. These additional 11 patients contribute to the understanding of variability in stroke-like migraine attacks after radiation therapy syndrome, which often but not uniformly manifests with headaches and seizures, demonstrates a typical evolution of imaging findings, and may result in permanent neurologic and imaging sequelae.
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PMID:Stroke-like migraine attacks after radiation therapy (SMART) syndrome is not always completely reversible: a case series. 2378 1

Objective. To study the electrical activity of the brain in children with developmental dysphasia (alalia). Material and methods. We analyzed the EEGs of 65 children with developmental dysphasia, including 48 boys and 17 girls, aged from 3 to 4 years 11 months. General speech underdevelopment (GSU) of the 1st level (with active vocabulary less than 15-20 words) was found in 31 children and GSU of the 2nd level (with active vocabulary of 20-50 words) - in 34 children. To specify the changes in the brain electrical activity, we conducted video-EEG-monitoring during sleep and waking states in 27 patients. Results. Focal epileptiform EEG changes with no concomitant paroxysmal symptoms were recorded in 12,3% of children with dysphasia. The epileptiform activity was more frequent in GSU of the 1st level (5 (16.1%) patients) than in GSU of the 2nd level (3 (8.8%) patients). Benign epileptiform discharges of childhood with low index were identified in 2 (6,5%) children with GSU of the 1st level and in1 (2,9%) child with GSU of the 2nd level; low index spike-waves were recorded in 3 (9,7%) children with GSU of the 1st level and in 2 (5,9%) with GSU of the 2nd level. Conclusion. The data allow to clarify the frequency of epileptiform EEG activity in those children with developmental dysphasia, who do not have autism or history of seizures. The differential diagnosis with rare epileptic encephalopathies is needed, such as epilepsy with electrical status epilepticus during slow sleep (ESES) and Landau-Kleffner syndrome.
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PMID:[Developmental dysphasia and epileptiform EEG activity in children]. 2487 31

Herpes simplex encephalitis (HSE) is a serious disease with 10-20% mortality and high rate of neuropsychiatric sequelae. This study is a long-term, nationwide study in a single country, Iceland. Clinical data were obtained from patient records and from DNA PCR and antibody assays of CSF. Diagnosis of HSE was classified as definite, possible or rejected based on symptoms, as well as virological, laboratory and brain imaging criteria. A total of 30 definite cases of HSE were identified during the 25 year period 1987-2011 corresponding to incidence of 4.3 cases/106 inhabitants/year. Males were 57% of all patients, median age 50 years (range, 0-85). Fever (97%), cognitive deficits (79%), impaired consciousness (79% with GCS < 13), headache (55%) and seizures (55%) were the most common symptoms. Brain lesions were found in 24 patients (80%) by MRI or CT. All patients received intravenous acyclovir for a mean duration of 20 days. Three patients (10%) died within one year and 21/28 pts (75%) had a Karnofsky performance score of <70% with memory loss (59%), dysphasia (44%), frontal symptoms (44%) and seizures (30%) as the most frequent sequelae. Mean delay from onset of symptoms to treatment was 6 days; this was associated with adverse outcome. In conclusion, the incidence of `HSE is higher than recently reported in a national registry study from Sweden. Despite advances in rapid diagnosis and availability of treatment of HSE, approximately three of every four patients die or are left with serious neurological impairment.
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PMID:Herpes simplex encephalitis in Iceland 1987-2011. 2527 15


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