Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

BACKGROUND: Although seizures (other than myoclonus) are frequently reported in Creutzfeldt-Jakob disease (CJD), their frequency, clinical manifestations, and effect on the disease course is unknown. OBJECTIVES: To characterize the frequency of seizures in E200K familial and sporadic CJD, to describe its semiology, EEG and MRI findings. METHODS: In this retrospective study, we reviewed all patients with CJD who were seen in the Sheba Medical Center between the years 2003-2012 and underwent clinical evaluation, genetic testing, EEG and MRI studies. The diagnosis of seizures was carried out based on documentation of episodes consistent with seizures or episode of unresponsiveness correlated with ictal activity in EEG. RESULTS: Sixty-four probable patients with CJD were included in the study, 57 (89%) with E200K familial (fCJD) and 7 (11%) with sporadic (sCJD). Seizures occurred in 8 patients: 3 of 7 (43%) in patients with sCJD compared to 5/57 (9%) in patients with E200K fCJD (P = 0.04, chi-square test). Two of E200K fCJD patients with seizures had other non-prion etiologies for seizures (brain metastasis, known history of temporal lobe epilepsy which started 44 years before the diagnosis of CJD). Seizures occurred late in the course of the disease with an average of 12 days between the onset of seizures and death. CONCLUSION: Seizures in E200K fCJD were infrequent and occurred late in the disease course. This difference suggests that E200K fCJD represents a separate subtype of the disease with distinct clinical characteristics.

Clinical and electroencephalographic findings in acutely ill adults with non-convulsive vs convulsive status epilepticus.

BACKGROUND: Non-convulsive status epilepticus (NCSE) indicates a change in the mental state with no motor manifestations, being a clinical expression of prolonged epileptiform activity. In contrast to convulsive status epilepticus (CSE), no unified treatment recommendations have been proposed so far. We were interested to review the clinical and encephalographic characteristics in hospitalized patients with NCSE and CSE and compare their treatment and outcome. PATIENTS AND METHODS: The electroencephalographic recording records of adult patients with electrographic status epilepticus were retrieved. Patients' clinical records were then analyzed. RESULTS: Fifty-three patients with CSE and 25 patients with NCSE were identified. Background diseases, neuroimaging findings and complications were similar in CSE and NCSE. Anoxia was a more frequent etiological factor only for myoclonic SE. Patients with CSE presented more often with coma. The number of drugs used for treatment was similar, but anesthetics drugs were administered more frequently in patients with CSE. The 30-day mortality rate was higher in myoclonic SE and generalized tonic-clonic SE, but the outcome on discharge in terms of survival and recovery was comparable between CSE and NCSE. CONCLUSIONS: The results of the present study show that the clinical parameters of NCSE in acutely ill patients do not substantially differ from those of patients with CSE. Moreover, despite more severe mental changes and the need for more anesthetic drugs for treatment of CSE, the final outcome did not differ between both groups. This might indicate that NCSE in acutely ill patients should be regarded as seriously as CSE.

Outcome of lamotrigine treatment in juvenile myoclonic epilepsy.

OBJECTIVES: To determine the response rate of patients with juvenile myoclonic epilepsy (JME) to lamotrigine (LTG) and identify predictive factors for treatment response. MATERIAL AND METHODS: Medical records of 62 patients with JME were reviewed for demographic, clinical, and EEG parameters. We determined clinical response to LTG and compared LTG responders with non-responders. RESULTS: There were 35 LTG responders (56%) and 27 non-responders (44%). JME patients without generalized tonic clonic seizures (GTCS) responded better to LTG (P = 0.04). Valproic acid (VPA) failure because of adverse events rather than lack of efficacy (P = 0.069) and delay in diagnosis (P = 0.07) showed a tendency toward good response to LTG. CONCLUSIONS: LTG should be considered a drug of first choice for JME patients without GTCS. LTG as second-line treatment after VPA failure seems more appropriate for those patients whose reason for VPA failure is poor tolerability rather than lack of efficacy.

Triphasic waves in a psychiatric population: a retrospective study.

In a retrospective study of 15.326 EEGs performed from 1983 to 1992 in a psychiatric institute, 83 EEGs (62 patients-13 men and 49 women ranging in age from 59 to 90 years, with a mean age of 74 years) had triphasic waves (TWs). All 62 patients were awake, though they were often confused. Most (n = 56) had dementia, usually severe; 15 also had delirium. There were six nondemented patients (age range, 59-79 years, with a mean age of 67 years). Infrequent etiologies included neuroleptic malignant syndrome (n = 1) and hepatic encephalopathy (n = 1); in four, the cause was uncertain, although all were receiving lithium. EEG features analyzed included frequency of background rhythms, distribution of the TWs, periodicity, and epileptiform abnormalities. Background rhythms were slow in all but seven patients (mean, 6.2 +/- 1.7 [SD] Hz). TWs were maximal posteriorly in 47 patients and anteriorly in six and were diffuse in nine. Neuroimaging studies showed prominent posterior abnormalities in only one case. Periodicity was prominent in four patients; in two the TWs were maximal anteriorly. Interictal epileptiform activity was present in six, a history of seizures in eight, and myoclonus in four. TWs are uncommon in a psychiatric population; they occur primarily in elderly, severely demented patients. They are usually associated with background slowing, are often maximal posteriorly, and occasionally are periodic.

Training singing children during the phases of voice mutation.

Development of singing ability in children is well documented and frequently fraught with admonitions to postpone formal training until the age of 17 or 18 years for boys and 16 years for girls, when voice change is usually complete and the risk for damaging developing structures is minimal. The author contends that the interval of voice mutation, a time of rapid physical change, is precisely the period when the young singer should pursue human musical instrument training under tutelage of singing teachers knowledgeable and experienced in the training techniques described herein and with the guidance of an otorhinolaryngologist to evaluate and monitor fitness. Voice mutation is viewed as a natural process of maturation, which can be enhanced by a formal training program.

Epilepsy syndrome-associated balance dysfunction assessed by static posturography.

PURPOSE: To compare subclinical balance dysfunction in patients with various epilepsy syndromes with apparently healthy subjects. METHODS: Twenty-seven patients with localization-related epilepsy (LRE), 19 with primary generalized epilepsy (PGE), who had no subjective complaints of impaired balance and no abnormal neurologic findings on examination, and 22 apparently healthy subjects, underwent static posturography using the Posture Scale Analyzer (PSA) system. RESULTS: Sway index was higher in patients compared to healthy subjects in all tests, significant for single leg stance (p=0.005). Patients with PGE had a higher sway index compared to patients with LRE in six of the tests, also significant for single leg stance (p=0.027). This difference was not affected by the type of AED treatment or disease duration. CONCLUSION: Posturography can improve balance function assessment in patients with epilepsy, demonstrate subclinical impairment in seemingly asymptomatic patients, and further characterize balance deficits in different epilepsy syndromes.

Fenestration tympanoplasty: an adjunctive technique for hearing restoration.

Two-staged fenestration tympanoplasty is a form of total tympanoplasty type V that incorporates the mastoidotympanomastoidectomy (radical mastoidectomy) and revives the Lempert horizontal semicircular canal fenestration operation. It is valuable when the usual and customary single or two-staged tympanoplasty procedures fail to conserve or restore hearing in the operative management of otitic disease. Two-staged fenestration tympanoplasty is also indicated in audiometric failure tympanoplasties, in oval window surgery failures in the absence of supporting ossicles and in the presence of a fibrosed or sclerosed oval window, and in severe otitic oval window-round window-posterior tympanic recess-tympanic orifice eustachian tube infection, which can only be completely removed by the mastoidotympanectomy. Total tympanoplasty type V as described here has produced serviceable hearing for human conversation and the speech frequencies to the 15-dB to 25-dB levels, and a 20 dB average in 19 of 21 patients operated on for a 90% success rate.

Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations.

Six patients with a newly described genetic syndrome in Iraqi and Iranian Jews of congenital myasthenia associated with facial malformations were studied with voluntary and stimulation single fiber EMG (SFEMG). Voluntary SFEMG revealed abnormal jitter in all patients in both extensor digitorum communis (EDC) and orbicularis oculi (OOC) muscles, though much smaller in the clinically unaffected EDC. SFEMG study of OOC muscle by axonal stimulation at rates from 1 to 48 Hz showed the most increased jitter at the highest stimulation frequencies in the majority of end-plates, one-third of which showed maximal jitter at intermediate rates. These results may suggest a postsynaptic abnormality as the underlying cause for the neuromuscular transmission defect, and demonstrate the usefulness of SFEMG in the diagnosis of congenital myasthenia.

Cogan's syndrome complicated by lacunar brain infarcts.

Cogan's syndrome, nonsyphilitic interstitial keratitis with vestibuloauditory dysfunction, is an uncommon disease of young adults, probably a manifestation of vasculitis. A 32 year old woman with this syndrome developed a thalamic syndrome with amnesia and dysphasia due to lacunar infarcts.

Extracranial metastases of medulloblastoma in adults: literature review.

A consecutive series of 30 cases of extracranial medulloblastoma metastases in adults is analysed. The majority of the patients were males with a 3:1 male/female ratio. Bone was the most frequent site of metastases in adults (77%) and children (78%), followed by lymph nodes (33%) in both children and adults. Lung metastases were more common in adults (17%), but liver metastases occurred more frequently in children (15%). Possible routes of spread and development of metastases are discussed, with special emphasis on the role of shunts in tumour seeding. Distant extracranial metastatic spread of medulloblastoma occurs at the rate of 7.1%. Mean interval between operation of the primary tumour and the discovery of metastases was shorter in children (20 months) than in adults (36 months). Survival after the discovery of metastases was also shorter in children (5 months) than in adults (9.5 months). Shunts were associated with an earlier appearance of metastases and with a poorer prognosis. A detailed review of the literature of 119 cases of medulloblastoma with extracranial metastases is provided.

Stimulus-sensitive seizures in postanoxic coma.

PURPOSE: To describe four patients with stimulus-sensitive seizures and myoclonus following severe hypoxic-ischemic injury. METHODS: In 22 months, four adult patients with myoclonus, generalized tonic-clonic, and clonic seizures following tactile stimulation were identified. EEG and hospital records were reviewed. RESULTS: EEGs showed bursts of generalized spike and polyspike activity following tactile stimulation associated with the clinical seizures. No cerebral activity was present between the epileptiform bursts. At times, prolonged periods of suppression were recorded. All patients failed to respond to antiepileptic drugs and died. CONCLUSIONS: Stimulus-sensitive seizures and myoclonus following anoxia are associated with poor clinical outcome. The presence of seizures and myoclonus in conjunction with epileptiform discharges on EEG confirms that post-anoxic myoclonus is an epileptic state.