Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome.

INTRODUCTION: Prior to illustration of the causative genetic mutation responsible for Sotos syndrome, diagnosis was based on clinical criteria. They include characteristic facial gestalt, developmental delay, and evidence of overgrowth, in addition to other minor features as cardiac &genitourinary congenital malformation, seizures, scoliosis, among other features. Non-convulsive status epilepticus (NCSE) was not previously reported among Sotos patients. CASE SUMMARY: An eleven-years old boy, with developmental delay, characteristic facial & skeletal features presented to the emergency department with a two-hour episode of lapse of consciousness. Electroencephalogram (EEG) showed fluctuating generalized spike-wave/poly-spike wave discharge <2.5 Hertz (Hz), lasting throughout the duration of recording. Intravenous (IV) levetiracetam was associated with clinical & EEG improvement & accordingly the patient was diagnosed as NCSE. The mother reported history of polyhydramnios, febrile seizure & developmental delay. Through clinical & radiological assessment revealed generalized hypotonia, low intelligence quotient (IQ), congenital ureteric stricture & pulmonary hypertension, prominent retro-cerebellar cistern, in addition to scoliosis & facial features suggestive of Sotos Syndrome. Six months after presentation, the patient remained seizure free on levetiracetam monotherapy. CONCLUSION: NCSE could occur in Sotos syndrome. In our case, the first reported case of NCSE in Sotos syndrome, the characteristic facial & skeletal findings initiated further work up with fulfillment of the criteria required for the clinical diagnosis of Sotos syndrome.

Characteristics and outcome in an Egyptian Cohort with status epilepticus.

OBJECTIVES: Status epilepticus (SE) is an important cause of mortality worldwide. Information regarding associations of mortality outcome in Egypt is limited. The main objective of this study was to describe the clinical characteristics and factors associated with mortality of patients with SE admitted to Cairo University Hospitals. METHODS: A prospective observational hospital-based study was conducted from January 2017 to June 2018. Patients with SE aged ≥12 years old were followed with documentation of outcome on discharge as survival versus death. RESULTS: The study cohort included 144 SE patients. The majority of episodes (96.5%) were with prominent motor features, while nonconvulsive SE occurred in 3.5%. There was a clear semiology evolution in 22.9% of episodes, 56.3% had unchanging semiology (e.g., just convulsive or just nonconvulsive) and the semiology evolution could not be discerned in 20.8%. In relation to treatment, the majority of cases were responsive (46.5%), whereas 43.1% were refractory and only 10.4% were super-refractory SE. Apart from seven patients who were referred to other hospitals, 99 patients survived whereas 38 (26.4%) died. After regression analysis, only absence of a history of epilepsy, semiology evolution and mechanical ventilator use were associated with mortality increasing its odds by 3.7, 5, 111 times, respectively. CONCLUSION: Absence of a history of epilepsy, SE semiology evolution, and mechanical ventilator use was found to be associated with mortality outcome among Egyptian patients with SE.

Effect of Low-Dose Naltrexone on Egyptian Children with Intractable Epilepsy: A Case Series Study.

Epilepsy is a chronic neurological disorder affecting 50 million patients worldwide, in need of continuous treatment, while 30% of them are refractory to treatment. Despite multiple antiepileptic drugs are available for the treatment of epilepsy, still refractory epilepsy especially in children represents a social burden in developing countries. Low-dose naltrexone (LDN) has been proposed as an immune modulator in multiple diseases and proved benefit especially in diseases with immune dysregulation. The purpose of this study is to demonstrate the effect of LDN in the treatment of children with intractable epilepsy and discuss its potential role in epileptogenesis process.

External validation of STESS and EMSE as outcome prediction scores in an Egyptian cohort with status epilepticus.

PURPOSE: There is a lack of data concerning the performance of the outcome prediction scores in patients with status epilepticus (SE) in developing countries. The aim of this study was to compare the predictive performances of the status epilepticus severity score (STESS) and the epidemiology-based mortality score in status epilepticus (EMSE) and adaptation of such scoring system to be compatible with the nature of society. METHOD: This is a prospective study, conducted in Egypt from the period of January 2017 to June 2018. The main outcome measure was survival versus death, on hospital discharge. The cutoff point with the best sensitivity and specificity to predict mortality was determined through a receiver operating characteristic (ROC) curve. RESULTS: Among the 144 patients with SE with a mean age of 39.3 ±â€¯19.5 years recruited into the study, 38 patients (26.3%) died in the hospital with the survival of 99 patients while 7 patients (4.9%) were referred to other centers with an unknown outcome. Although EMSE had a bit larger area under the curve (AUC) (0.846) than STESS-3 (AUC 0.824), STESS-3 had the best performance as in-hospital death prediction score as it has a higher negative predictive value (94.6%) than that of EMSE (90.9%) in order not to miss high-risk patients. CONCLUSION: In the Egyptian population, STESS and EMSE are useful tools in predicting mortality outcome of SE. The STESS performed significantly better than EMSEE combinations as a mortality prediction score.

Insights into sleep-related hyper-motor epilepsy: an Egyptian case series.

Objective: Sleep-related hypermotor epilepsy (SHE) is a sleep-related focal epilepsy which is often misdiagnosed. Despite active pharmacological therapy in the management of this disorder, satisfactory seizure control still cannot be achieved. Therefore, the aim of the present study was to identify this disorder among people who were seeking medical advice at Cairo University Epilepsy Unit (CUEU), characterizing its clinical, electroencephalographic and imaging features besides identifying possible indicators of inadequate seizure control on drug-therapy. Patients and methods: This study was carried out on 26 patients with SHE who were subjected to detailed history taking and examination in addition to home video recording, video electroencephalographic (EEG) monitoring and brain imaging. Ictal semiology and EEGs were reviewed and analyzed by experienced neurologists. Results: SHE is an uncommon sleep-related focal epilepsy. In our series, median age of the patients was 18.5 years. It is characterized by being sporadic, with often frontal lobe seizure onset (14/26, 53.8%) and with occasional occurrence in wakefulness. Adolescence age at disease onset (11 years, 6-15), duration less than 1 min, clustering, lack of auras and often uninformative brain imaging (22/25, 88%) are all documented features. Moreover, it has a relatively poor outcome on pharmacological therapy (16/26, 61.5%). Longer disease duration (>4.5 years) was a significant feature of the patients exhibiting inadequate seizure control. Conclusions: Our data show relatively poor prognosis of SHE on medical therapy. Its outcome is significantly related to disease duration at the time of diagnosis. Abbreviation: SHE = Sleep related hypermotor epilepsy.

Prognosis of Bell Palsy: A Clinical, Neurophysiological, and Ultrasound Study.

PURPOSE: Bell palsy is the most common cause of acute facial nerve paralysis. Ultrasound has proved its ability in detecting structural lesions along the course of the affected nerves.The current work aimed at studying the accuracy of ultrasound to predict the prognosis of Bell palsy in correlation to the clinical scale and nerve conduction studies. METHODS: The study included 20 cases of acute Bell palsy treated with prednisolone and physiotherapy. The participants were examined using the House-Brackmann (HB) scale, electrophysiologically and neurosonologically in the affected side and healthy side that served as a control. RESULTS: There was significant correlation between HB outcomes with onset of HB results. There was significant increase in the distal facial nerve diameter on the affected side compared with the normal side (P < 0.001). Although ultrasound at onset did not predict the outcome, nerve conduction studies did predict the outcome. CONCLUSIONS: Baseline HB clinical assessment of Bell palsy gives information on the clinical outcome of the disease. In addition to that, initial nerve conduction studies proved to be superior to ultrasound in predicting the outcome.

Role of concentric needle Single Fiber Electromyography in detection of subclinical motor involvement in carpal tunnel syndrome.

BACKGROUND: Conventional motor nerve conduction studies are usually normal in early and mild carpal tunnel syndrome (CTS). Single-fiber electromyography (SFEMG) measures the mean consecutive difference (MCD) as an expression of the variability in impulse transmission over the motor endplates and along the nerve fibers distally to the last branching point and along the muscle fibers.Application of concentric needle SFEMG in a group of CTS patients who showed pure sensory abnormalities in nerve conduction studies to examine for subclinical motor involvement. METHODS: Thirty CTS patients having only sensory involvement proved clinically and by conventional electrophysiological studies were included in addition to 30 control subjects. Concentric needle SFEMG was performed to the abductor pollicis brevis (APB), abductor digiti minimi (ADM), and extensor digitorum communis (EDC) muscles. RESULTS: There was a statistically significant difference in the MCD between the patient and control groups in the APB only (p = 0.038). CONCLUSIONS: The results suggest the presence of a subclinical motor median neuropathy at the wrist in patients with early and mild carpal tunnel syndrome and highlight the validity of the concentric needle SFEMG in early neuropathies. TRIAL REGISTRATION: PACTR201802002971380 registered 12 February 2018, retrospectively registered.

Focal interictal epileptiform discharges in idiopathic generalized epilepsy.

Are idiopathic generalized epilepsies (IGEs) truly generalized? Do IGEs represent a continuum or rather distinct syndromes? Focal changes in the electroencephalography (EEG) have been reported in IGEs. The aim of this work is to investigate focal interictal epileptiform discharges (IEDs) in IGEs, and their relation to clinical variables. Forty-one IGE patients (classified according to ILAE, 2001) were recruited from a tertiary center (age 23 ± 10.938 years). Their files were reviewed and they were subjected to clinical examination and interictal EEG. Patients with focal IEDs were compared to those without focal IEDs. Nine patients had juvenile myoclonic epilepsy (JME) and 32 had idiopathic epilepsy with generalized tonic-clonic seizures only (EGTCSA). Focal IEDs were found in 20 patients, mostly in the frontal (45.5 %) and temporal (31.8 %) distribution. Patients with focal IEDs were treated with a larger number of combined antiepileptic drugs (AEDs) (p value = 0.022). No significant difference was found between the two groups regarding age, sex, age at onset, epilepsy syndrome, seizure frequency, family history, AEDs used (sodium valproate and carbamazepine) and their doses. Seventeen EGTCSA patients had focal IEDs. They were treated with larger number of combined AEDs (p value = 0.0142). No significant difference was found between the EGTCSA patients with and those without focal IEDs regarding age, sex, age at onset, seizure frequency, family history and AEDs doses. Caution must be applied in the interpretation of interictal focal IEDs. These focal changes may be related to prognosis, however this needs further investigation.